CRPPA-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	AGMO, ARL4A +62 more	Copy number loss	See cases	GPathogenic
Select item 147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	AGMO, AGR2 +59 more	Copy number loss	See cases	GPathogenic
Select item 144255	GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1	AGMO, AGR2 +23 more	Copy number loss	See cases	GPathogenic
Select item 58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	AGMO, AGR2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 583718	NC_000007.14:g.(?_16091675)_(16216217_?)del	CRPPA, CRPPA-AS1 +1 more	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 148160	GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1	AGR2, AGR3 +84 more	Copy number loss	See cases	GPathogenic
Select item 672639	NM_001101426.4(CRPPA):c.1251+252G>A	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682001	NM_001101426.4(CRPPA):c.1251+89T>A	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257462	NM_001101426.4(CRPPA):c.1251+50A>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 583458	NC_000007.14:g.(?_16216046)_(16376261_?)del	CRPPA, CRPPA-AS1 +1 more	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 540375	NC_000007.14:g.(?_16216046)_(16216217_?)del	CRPPA-AS1, CRPPA	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely pathogenic
Select item 1680740	NM_001101426.4(CRPPA):c.1251+19T>A	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 385910	NM_001101426.4(CRPPA):c.1251+18C>T	CRPPA-AS1, CRPPA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1680741	NM_001101426.4(CRPPA):c.1251+17T>A	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 515784	NM_001101426.4(CRPPA):c.1251+16A>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GBenign/Likely benign
Select item 910684	NM_001101426.4(CRPPA):c.1251+11T>C	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GConflicting classifications of pathogenicity
Select item 662864	NC_000007.14:g.(?_16216056)_(16216207_?)del	CRPPA-AS1, CRPPA	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2166936	NM_001101426.4(CRPPA):c.1251+7A>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 359583	NM_001101426.4(CRPPA):c.1251+4G>A	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1680742	NM_001101426.4(CRPPA):c.1251+2T>C	CRPPA, CRPPA-AS1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GUncertain significance
Select item 289346	NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser)	CRPPA, CRPPA-AS1 (P416S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211210	NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val)	CRPPA, CRPPA-AS1 (L412V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 950143	NM_001101426.4(CRPPA):c.1226A>G (p.Tyr409Cys)	CRPPA, CRPPA-AS1 (Y374C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GUncertain significance
Select item 1680743	NM_001101426.4(CRPPA):c.1224A>T (p.Leu408Phe)	CRPPA, CRPPA-AS1 (L358F +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GUncertain significance
Select item 129285	NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser)	CRPPA, CRPPA-AS1 (L407S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1988403	NM_001101426.4(CRPPA):c.1219T>C (p.Leu407=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 429621	NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met)	CRPPA, CRPPA-AS1 (I406M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1805074	NM_001101426.4(CRPPA):c.1206del (p.Glu403fs)	CRPPA, CRPPA-AS1 (E353fs +2 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	GUncertain significance
Select item 2922605	NM_001101426.4(CRPPA):c.1203A>G (p.Val401=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 960841	NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter)	CRPPA, CRPPA-AS1 (E365* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GPathogenic
Select item 1680745	NM_001101426.4(CRPPA):c.1194A>C (p.Ala398=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 1680744	NM_001101426.4(CRPPA):c.1194A>T (p.Ala398=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 594085	NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr)	CRPPA, CRPPA-AS1 (A398T +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GUncertain significance
Select item 283091	NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter)	CRPPA-AS1, CRPPA (E396* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1680746	NM_001101426.4(CRPPA):c.1183A>G (p.Arg395Gly)	CRPPA, CRPPA-AS1 (R345G +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GUncertain significance
Select item 943785	NM_001101426.4(CRPPA):c.1175T>G (p.Met392Arg)	CRPPA-AS1, CRPPA (M392R +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 514544	NM_001101426.4(CRPPA):c.1170C>T (p.Asn390=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GLikely benign
Select item 1133440	NM_001101426.4(CRPPA):c.1167A>G (p.Glu389=)	CRPPA-AS1, CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 285719	NM_001101426.4(CRPPA):c.1161A>T (p.Lys387Asn)	CRPPA, CRPPA-AS1 (K387N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2027858	NM_001101426.4(CRPPA):c.1155T>C (p.Ser385=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2931762	NM_001101426.4(CRPPA):c.1152C>T (p.Pro384=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 199058	NM_001101426.4(CRPPA):c.1151C>T (p.Pro384Leu)	CRPPA, CRPPA-AS1 (P384L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 952536	NM_001101426.4(CRPPA):c.1148C>A (p.Pro383His)	CRPPA, CRPPA-AS1 (P333H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GUncertain significance
Select item 596394	NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr)	CRPPA, CRPPA-AS1 (P383T +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GConflicting classifications of pathogenicity
Select item 1680747	NM_001101426.4(CRPPA):c.1146A>G (p.Val382=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 1042160	NM_001101426.4(CRPPA):c.1139A>T (p.Lys380Ile)	CRPPA, CRPPA-AS1 (K330I +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2142758	NM_001101426.4(CRPPA):c.1137dup (p.Lys380Ter)	CRPPA, CRPPA-AS1 (K330* +2 more)	Duplication (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 910685	NM_001101426.4(CRPPA):c.1133A>G (p.Asp378Gly)	CRPPA, CRPPA-AS1 (D343G +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +2 more	GUncertain significance
Select item 1680748	NM_001101426.4(CRPPA):c.1128T>C (p.Phe376=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 500100	NM_001101426.4(CRPPA):c.1123_1126del (p.His375fs)	CRPPA, CRPPA-AS1 (H375fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2158670	NM_001101426.4(CRPPA):c.1122T>G (p.Val374=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 31561	NM_001101426.4(CRPPA):c.1120-1G>T	CRPPA, CRPPA-AS1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GPathogenic
Select item 2019681	NM_001101426.4(CRPPA):c.1120-3C>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GUncertain significance
Select item 1090980	NM_001101426.4(CRPPA):c.1120-4G>C	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 282648	NM_001101426.4(CRPPA):c.1120-4G>A	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GConflicting classifications of pathogenicity
Select item 1680749	NM_001101426.4(CRPPA):c.1120-7T>C	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 774187	NM_001101426.4(CRPPA):c.1120-10T>C	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +3 more	GConflicting classifications of pathogenicity
Select item 2936902	NM_001101426.4(CRPPA):c.1120-12del	CRPPA, CRPPA-AS1	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GBenign
Select item 1680750	NM_001101426.4(CRPPA):c.1120-12T>C	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2062422	NM_001101426.4(CRPPA):c.1120-17T>C	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 1680751	NM_001101426.4(CRPPA):c.1120-19T>A	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 669339	NM_001101426.4(CRPPA):c.1120-20C>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202469	NM_001101426.4(CRPPA):c.1120-132G>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674306	NM_001101426.4(CRPPA):c.1120-291C>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217219	NM_001101426.4(CRPPA):c.1120-297C>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668916	NM_001101426.4(CRPPA):c.1120-334C>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 540374	NC_000007.14:g.(?_16258370)_(16259032_?)del	CRPPA, CRPPA-AS1	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GPathogenic
Select item 1680752	NM_001101426.4(CRPPA):c.1119+19G>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 1680753	NM_001101426.4(CRPPA):c.1119+13A>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 661726	NC_000007.14:g.(?_16258380)_(16259022_?)del	CRPPA, CRPPA-AS1	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely pathogenic
Select item 1680754	NM_001101426.4(CRPPA):c.1119+3A>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GUncertain significance
Select item 156455	NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)	CRPPA, CRPPA-AS1 (V372del +2 more)	Microsatellite (inframe_deletion +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +3 more	GPathogenic/Likely pathogenic
Select item 2172733	NM_001101426.4(CRPPA):c.1112T>C (p.Val371Ala)	CRPPA, CRPPA-AS1 (V371A +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2440564	NM_001101426.4(CRPPA):c.1102C>G (p.Pro368Ala)	CRPPA, CRPPA-AS1 (P318A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122850	NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)	CRPPA, CRPPA-AS1 (C329* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GPathogenic
Select item 1124290	NM_001101426.4(CRPPA):c.1092C>T (p.Cys364=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 1680755	NM_001101426.4(CRPPA):c.1082G>A (p.Ser361Asn)	CRPPA, CRPPA-AS1 (S311N +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 1998324	NM_001101426.4(CRPPA):c.1081A>G (p.Ser361Gly)	CRPPA, CRPPA-AS1 (S361G +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 198765	NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 283299	NM_001101426.4(CRPPA):c.1058A>G (p.Lys353Arg)	CRPPA, CRPPA-AS1 (K353R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690579	NM_001101426.4(CRPPA):c.1054_1055dup (p.Gln352fs)	CRPPA, CRPPA-AS1 (Q302fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 198766	NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)	CRPPA, CRPPA-AS1 (Q352K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1680756	NM_001101426.4(CRPPA):c.1045C>A (p.Gln349Lys)	CRPPA, CRPPA-AS1 (Q299K +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GUncertain significance
Select item 1042794	NM_001101426.4(CRPPA):c.1040A>T (p.Asp347Val)	CRPPA, CRPPA-AS1 (D297V +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2688870	NM_001101426.4(CRPPA):c.1037C>T (p.Ser346Phe)	CRPPA, CRPPA-AS1 (S296F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 497376	NM_001101426.4(CRPPA):c.1030dup (p.Thr344fs)	CRPPA-AS1, CRPPA (T294fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 497930	NM_001101426.4(CRPPA):c.1027-7C>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2950595	NM_001101426.4(CRPPA):c.1027-18A>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign

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