26227[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 155139	GRCh38/hg38 1p12(chr1:118933857-119977655)x1	ADAM30, HAO2 +38 more	Copy number loss	See cases	GUncertain significance
Select item 292296	NM_006623.3(PHGDH):c.-222G>A	PHGDH	Single nucleotide variant	PHGDH deficiency	GUncertain significance
Select item 292297	NM_006623.3(PHGDH):c.-207G>A	PHGDH	Single nucleotide variant	PHGDH deficiency	GUncertain significance
Select item 292298	NM_006623.3(PHGDH):c.-183G>A	PHGDH	Single nucleotide variant	PHGDH deficiency	GUncertain significance
Select item 292299	NM_006623.3(PHGDH):c.-140A>G	PHGDH	Single nucleotide variant	Neu-Laxova syndrome 1 +2 more	GBenign
Select item 1300431	NC_000001.11:g.119711913G>A	PHGDH	Single nucleotide variant	not provided	GLikely benign
Select item 292300	NM_006623.3(PHGDH):c.-101G>C	PHGDH	Single nucleotide variant	not provided +2 more	GBenign
Select item 292301	NM_006623.4(PHGDH):c.-79T>C	PHGDH	Single nucleotide variant (5 prime UTR variant)	PHGDH deficiency	GUncertain significance
Select item 292302	NM_006623.4(PHGDH):c.-11C>T	PHGDH	Single nucleotide variant (5 prime UTR variant)	PHGDH deficiency	GUncertain significance
Select item 2169478	NM_006623.4(PHGDH):c.1A>C (p.Met1Leu)	PHGDH (M1L)	Single nucleotide variant (missense variant +1 more)	PHGDH deficiency	GPathogenic
Select item 1414498	NM_006623.4(PHGDH):c.1A>G (p.Met1Val)	PHGDH (M1V)	Single nucleotide variant (missense variant +1 more)	PHGDH deficiency	GPathogenic
Select item 1331415	NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)	PHGDH (M1T)	Single nucleotide variant (missense variant +1 more)	PHGDH deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2030302	NM_006623.4(PHGDH):c.12A>T (p.Ala4=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1431710	NM_006623.4(PHGDH):c.13A>G (p.Asn5Asp)	PHGDH (N5D)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1114490	NM_006623.4(PHGDH):c.16C>T (p.Leu6=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1494191	NM_006623.4(PHGDH):c.20G>C (p.Arg7Pro)	PHGDH (R7P)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1578617	NM_006623.4(PHGDH):c.21G>C (p.Arg7=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1393177	NM_006623.4(PHGDH):c.22A>T (p.Lys8Ter)	PHGDH (K8*)	Single nucleotide variant (nonsense)	PHGDH deficiency	GPathogenic
Select item 1473047	NM_006623.4(PHGDH):c.24A>T (p.Lys8Asn)	PHGDH (K8N)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1424885	NM_006623.4(PHGDH):c.25G>C (p.Val9Leu)	PHGDH (V9L)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1539416	NM_006623.4(PHGDH):c.30C>T (p.Leu10=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1393987	NM_006623.4(PHGDH):c.34A>G (p.Ser12Gly)	PHGDH (S12G)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 2129061	NM_006623.4(PHGDH):c.35G>T (p.Ser12Ile)	PHGDH (S12I)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 452805	NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly)	PHGDH (S14G)	Single nucleotide variant (missense variant)	PHGDH deficiency +2 more	GUncertain significance
Select item 1949450	NM_006623.4(PHGDH):c.42C>T (p.Ser14=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1138023	NM_006623.4(PHGDH):c.48C>T (p.Asp16=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1082043	NM_006623.4(PHGDH):c.54C>T (p.Cys18=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1355708	NM_006623.4(PHGDH):c.62A>C (p.Lys21Thr)	PHGDH (K21T)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1104172	NM_006623.4(PHGDH):c.67T>C (p.Leu23=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2823257	NM_006623.4(PHGDH):c.68T>A (p.Leu23Ter)	PHGDH (L23*)	Single nucleotide variant (nonsense)	PHGDH deficiency	GPathogenic
Select item 644494	NM_006623.4(PHGDH):c.68T>G (p.Leu23Trp)	PHGDH (L23W)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1446120	NM_006623.4(PHGDH):c.69G>C (p.Leu23Phe)	PHGDH (L23F)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1413830	NM_006623.4(PHGDH):c.70C>T (p.Gln24Ter)	PHGDH (Q24*)	Single nucleotide variant (nonsense)	PHGDH deficiency	GPathogenic
Select item 2877939	NM_006623.4(PHGDH):c.72A>G (p.Gln24=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1136390	NM_006623.4(PHGDH):c.75T>C (p.Asp25=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 990731	NM_006623.4(PHGDH):c.77G>A (p.Gly26Glu)	PHGDH (G26E)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1520914	NM_006623.4(PHGDH):c.79G>C (p.Gly27Arg)	PHGDH (G27R)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1086784	NM_006623.4(PHGDH):c.81G>C (p.Gly27=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2034515	NM_006623.4(PHGDH):c.84G>A (p.Leu28=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1471324	NM_006623.4(PHGDH):c.86A>G (p.Gln29Arg)	PHGDH (Q29R)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 2070861	NM_006623.4(PHGDH):c.87G>T (p.Gln29His)	PHGDH (Q29H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1598368	NM_006623.4(PHGDH):c.90G>C (p.Val30=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2871121	NM_006623.4(PHGDH):c.94_110del (p.Glu32fs)	PHGDH (E32fs)	Deletion (frameshift variant)	PHGDH deficiency	GPathogenic
Select item 2030521	NM_006623.4(PHGDH):c.93G>A (p.Val31=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1134855	NM_006623.4(PHGDH):c.99G>A (p.Lys33=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2026053	NM_006623.4(PHGDH):c.102G>A (p.Gln34=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 2895316	NM_006623.4(PHGDH):c.105C>T (p.Asn35=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1500959	NM_006623.4(PHGDH):c.107T>C (p.Leu36Pro)	PHGDH (L36P)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 2076108	NM_006623.4(PHGDH):c.109A>G (p.Ser37Gly)	PHGDH (S37G)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +2 more	GUncertain significance
Select item 452435	NM_006623.4(PHGDH):c.109A>T (p.Ser37Cys)	PHGDH (S37C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655942	NM_006623.4(PHGDH):c.111C>T (p.Ser37=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1454660	NM_006623.4(PHGDH):c.117_118delinsCT (p.Glu39_Glu40delinsAspTer)	PHGDH	Indel (nonsense)	PHGDH deficiency	GPathogenic
Select item 1463379	NM_006623.4(PHGDH):c.118_119delinsTT (p.Glu40Leu)	PHGDH (E40L)	Indel (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1410064	NM_006623.4(PHGDH):c.118G>T (p.Glu40Ter)	PHGDH (E40*)	Single nucleotide variant (nonsense)	PHGDH deficiency	GPathogenic
Select item 1308575	NM_006623.4(PHGDH):c.119A>G (p.Glu40Gly)	PHGDH (E40G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1397494	NM_006623.4(PHGDH):c.120G>T (p.Glu40Asp)	PHGDH (E40D)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1901031	NM_006623.4(PHGDH):c.127G>C (p.Ala43Pro)	PHGDH (A43P)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 990732	NM_006623.4(PHGDH):c.129G>A (p.Ala43=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1528113	NM_006623.4(PHGDH):c.135G>T (p.Leu45=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1428429	NM_006623.4(PHGDH):c.138G>C (p.Gln46His)	PHGDH (Q46H)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 292303	NM_006623.4(PHGDH):c.138G>A (p.Gln46=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GUncertain significance
Select item 2845254	NM_006623.4(PHGDH):c.138+1G>T	PHGDH	Single nucleotide variant (splice donor variant)	PHGDH deficiency	GLikely pathogenic
Select item 916535	NM_006623.4(PHGDH):c.138+2dup	PHGDH	Duplication (splice donor variant)	PHGDH deficiency	GPathogenic
Select item 2074398	NM_006623.4(PHGDH):c.138+6G>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GUncertain significance
Select item 2046066	NM_006623.4(PHGDH):c.138+9A>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2884908	NM_006623.4(PHGDH):c.138+12G>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2708986	NM_006623.4(PHGDH):c.138+19A>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 1301088	NM_006623.4(PHGDH):c.138+24A>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301158	NM_006623.4(PHGDH):c.138+130G>C	LOC129931307, PHGDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164921	NM_006623.4(PHGDH):c.138+2327T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GBenign
Select item 1245095	NM_006623.4(PHGDH):c.139-150T>C	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294071	NM_006623.4(PHGDH):c.139-136A>G	PHGDH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1580587	NM_006623.4(PHGDH):c.139-19A>G	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2799725	NM_006623.4(PHGDH):c.139-18A>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 1348349	NM_006623.4(PHGDH):c.139-17T>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GUncertain significance
Select item 2968827	NM_006623.4(PHGDH):c.139-10dup	PHGDH	Duplication (intron variant)	PHGDH deficiency	GBenign
Select item 1943585	NM_006623.4(PHGDH):c.139-16G>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2994961	NM_006623.4(PHGDH):c.139-15T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2984446	NM_006623.4(PHGDH):c.139-10del	PHGDH	Deletion (intron variant)	PHGDH deficiency	GBenign
Select item 292306	NM_006623.4(PHGDH):c.139-13T>C	PHGDH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2813526	NM_006623.4(PHGDH):c.139-11T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2853774	NM_006623.4(PHGDH):c.139-7G>A	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 1119769	NM_006623.4(PHGDH):c.139-7G>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2132428	NM_006623.4(PHGDH):c.139-6C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 2850376	NM_006623.4(PHGDH):c.139-5T>C	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GLikely benign
Select item 1473605	NM_006623.4(PHGDH):c.139-3C>T	PHGDH	Single nucleotide variant (intron variant)	PHGDH deficiency	GUncertain significance
Select item 2779632	NM_006623.4(PHGDH):c.139-2A>G	PHGDH	Single nucleotide variant (splice acceptor variant)	PHGDH deficiency	GLikely pathogenic
Select item 1524690	NM_006623.4(PHGDH):c.142T>C (p.Cys48Arg)	PHGDH (C48R)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 2171715	NM_006623.4(PHGDH):c.143G>A (p.Cys48Tyr)	PHGDH (C48Y)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1055935	NM_006623.4(PHGDH):c.160C>T (p.Arg54Cys)	PHGDH (R54C)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 2915448	NM_006623.4(PHGDH):c.162C>G (p.Arg54=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1129633	NM_006623.4(PHGDH):c.162C>T (p.Arg54=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1453925	NM_006623.4(PHGDH):c.171del (p.Lys58fs)	PHGDH (K58fs)	Deletion (frameshift variant)	PHGDH deficiency	GPathogenic
Select item 1434885	NM_006623.4(PHGDH):c.175G>T (p.Val59Leu)	PHGDH (V59L)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 1419515	NM_006623.4(PHGDH):c.176T>G (p.Val59Gly)	PHGDH (V59G)	Single nucleotide variant (missense variant)	PHGDH deficiency	GUncertain significance
Select item 794014	NM_006623.4(PHGDH):c.180C>T (p.Thr60=)	PHGDH	Single nucleotide variant (synonymous variant)	PHGDH deficiency	GLikely benign
Select item 1163152	NM_006623.4(PHGDH):c.181G>A (p.Ala61Thr)	PHGDH (A61T)	Single nucleotide variant (missense variant)	Neu-Laxova syndrome 1 +3 more	GUncertain significance

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