2639[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	LOC130063636, LOC130063637 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	BEST2, BRME1 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC130063796, LOC130063797 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 889192	NM_000159.4(GCDH):c.-69T>C	GCDH, LOC117125594	Single nucleotide variant (5 prime UTR variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 328326	NM_000159.4(GCDH):c.-67dup	GCDH, LOC117125594	Duplication (5 prime UTR variant +1 more)	Elevated circulating glutaric acid concentration	GUncertain significance
Select item 889874	NM_000159.4(GCDH):c.-50C>T	GCDH, LOC117125594	Single nucleotide variant (5 prime UTR variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 328327	NM_000159.4(GCDH):c.-49G>A	GCDH, LOC117125594	Single nucleotide variant (5 prime UTR variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 931428	NM_000159.4(GCDH):c.-47G>A	GCDH, LOC117125594	Single nucleotide variant (5 prime UTR variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 386516	NM_000159.4(GCDH):c.-35G>A	GCDH, LOC117125594	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 388409	NM_000159.4(GCDH):c.-35+3A>G	GCDH, LOC117125594	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 328328	NM_000159.4(GCDH):c.-35+9G>A	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GUncertain significance
Select item 1172947	NM_000159.4(GCDH):c.-35+17A>G	GCDH, LOC117125594	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 508017	NM_000159.4(GCDH):c.-35+17_-35+19delinsGG	GCDH, LOC117125594	Indel (intron variant)	not specified	GLikely benign
Select item 680173	NM_000159.4(GCDH):c.-35+19C>T	GCDH, LOC117125594	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 889875	NM_000159.4(GCDH):c.-34-11C>A	GCDH, LOC117125594	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1217541	NM_000159.4(GCDH):c.-4G>C	GCDH, LOC117125594	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2577569	NM_000159.4(GCDH):c.1A>G (p.Met1Val)	GCDH, LOC117125594 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 552917	NM_000159.4(GCDH):c.1A>C (p.Met1Leu)	GCDH, LOC117125594 (M1L)	Single nucleotide variant (missense variant +2 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 551240	NM_000159.4(GCDH):c.3G>A (p.Met1Ile)	LOC117125594, GCDH (M1I)	Single nucleotide variant (missense variant +2 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 1106541	NM_000159.4(GCDH):c.6C>T (p.Ala2=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2675879	NM_000159.4(GCDH):c.7_8del (p.Leu3fs)	GCDH, LOC117125594 (L3fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2034178	NM_000159.4(GCDH):c.7C>T (p.Leu3=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1070084	NM_000159.4(GCDH):c.8dup (p.Arg4fs)	GCDH, LOC117125594 (R4fs)	Duplication (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2696207	NM_000159.4(GCDH):c.15C>T (p.Gly5=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1130608	NM_000159.4(GCDH):c.15C>A (p.Gly5=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 990515	NM_000159.4(GCDH):c.29T>C (p.Leu10Pro)	GCDH, LOC117125594 (L10P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 735229	NM_000159.4(GCDH):c.38G>A (p.Arg13His)	GCDH, LOC117125594 (R13H)	Single nucleotide variant (missense variant +1 more)	GCDH-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2675884	NM_000159.4(GCDH):c.41_42delinsT (p.Gly14fs)	GCDH, LOC117125594 (G14fs)	Indel (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 1094186	NM_000159.4(GCDH):c.42A>T (p.Gly14=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1120389	NM_000159.4(GCDH):c.45C>T (p.Pro15=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1109393	NM_000159.4(GCDH):c.48C>G (p.Gly16=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2063110	NM_000159.4(GCDH):c.49C>G (p.Leu17Val)	GCDH, LOC117125594 (L17V)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 1551929	NM_000159.4(GCDH):c.49C>T (p.Leu17=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1103984	NM_000159.4(GCDH):c.51G>T (p.Leu17=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	GCDH-related condition +1 more	GLikely benign
Select item 1097568	NM_000159.4(GCDH):c.51G>A (p.Leu17=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 703132	NM_000159.4(GCDH):c.54C>T (p.His18=)	LOC117125594, GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1 +1 more	GLikely benign
Select item 3009591	NM_000159.4(GCDH):c.57C>T (p.Val19=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1582516	NM_000159.4(GCDH):c.57C>A (p.Val19=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2176216	NM_000159.4(GCDH):c.63C>T (p.Arg21=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 551431	NM_000159.4(GCDH):c.73TCG[1] (p.Ser26del)	GCDH, LOC117125594 (S26del)	Microsatellite (inframe_deletion +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 2402129	NM_000159.4(GCDH):c.74C>T (p.Ser25Leu)	LOC117125594, GCDH (S25L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1126669	NM_000159.4(GCDH):c.75G>T (p.Ser25=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2144665	NM_000159.4(GCDH):c.78G>A (p.Ser26=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1655215	NM_000159.4(GCDH):c.78G>C (p.Ser26=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 371011	NM_000159.4(GCDH):c.79del (p.Ala27fs)	GCDH, LOC117125594 (A27fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic/Likely pathogenic
Select item 370485	NM_000159.4(GCDH):c.80_81del (p.Ala27fs)	GCDH, LOC117125594 (A27fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2413367	NM_000159.4(GCDH):c.80C>T (p.Ala27Val)	GCDH, LOC117125594 (A27V)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 1569887	NM_000159.4(GCDH):c.81G>T (p.Ala27=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2005211	NM_000159.4(GCDH):c.84G>T (p.Ala28=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1116573	NM_000159.4(GCDH):c.84G>A (p.Ala28=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 235859	NM_000159.4(GCDH):c.87G>A (p.Gln29=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GBenign
Select item 1070459	NM_000159.4(GCDH):c.91G>T (p.Glu31Ter)	GCDH, LOC117125594 (E31*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 2700256	NM_000159.4(GCDH):c.91+8_91+9del	GCDH, LOC117125594	Microsatellite (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 647712	NM_000159.4(GCDH):c.91+5G>A	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GConflicting classifications of pathogenicity
Select item 2087	NM_000159.4(GCDH):c.91+5G>T	GCDH, KLF1 +1 more	Single nucleotide variant (intron variant)	BLOOD GROUP--LUTHERAN INHIBITOR +3 more	GPathogenic
Select item 2115208	NM_000159.4(GCDH):c.91+8T>A	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2695852	NM_000159.4(GCDH):c.91+12G>A	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2718094	NM_000159.4(GCDH):c.91+14C>A	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2918619	NM_000159.4(GCDH):c.91+15G>T	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 1194077	NM_000159.4(GCDH):c.91+46G>T	GCDH, LOC117125594	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016397	NM_000159.4(GCDH):c.92-18C>T	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2717341	NM_000159.4(GCDH):c.92-16C>T	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2731678	NM_000159.4(GCDH):c.92-15G>T	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 1625151	NM_000159.4(GCDH):c.92-14T>C	LOC117125594, GCDH	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 1641834	NM_000159.4(GCDH):c.92-10G>A	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 1668827	NM_000159.4(GCDH):c.92-8G>C	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 1132227	NM_000159.4(GCDH):c.92-7C>T	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1110734	NM_000159.4(GCDH):c.92-4G>A	GCDH, LOC117125594	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1	GLikely benign
Select item 2724900	NM_000159.4(GCDH):c.99C>A (p.Gly33=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 761327	NM_000159.4(GCDH):c.102G>A (p.Gly34=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 958212	NM_000159.4(GCDH):c.109_110del (p.Gln37fs)	GCDH, LOC117125594 (Q37fs)	Microsatellite (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 1998366	NM_000159.4(GCDH):c.108A>G (p.Thr36=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2773062	NM_000159.4(GCDH):c.109C>T (p.Gln37Ter)	GCDH, LOC117125594 (Q37*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 1313580	NM_000159.4(GCDH):c.110A>G (p.Gln37Arg)	GCDH, LOC117125594 (Q37R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1699506	NM_000159.4(GCDH):c.114C>A (p.Ser38Arg)	GCDH, LOC117125594 (S38R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1127450	NM_000159.4(GCDH):c.114C>T (p.Ser38=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 654494	NM_000159.4(GCDH):c.116A>C (p.Gln39Pro)	GCDH, LOC117125594 (Q39P)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1	GUncertain significance
Select item 1097789	NM_000159.4(GCDH):c.117A>G (p.Gln39=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2865577	NM_000159.4(GCDH):c.120_123del (p.Ala41fs)	GCDH, LOC117125594 (A41fs)	Deletion (frameshift variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 1605469	NM_000159.4(GCDH):c.120G>A (p.Leu40=)	LOC117125594, GCDH	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2571032	NM_000159.4(GCDH):c.122C>T (p.Ala41Val)	GCDH, LOC117125594 (A41V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2188596	NM_000159.4(GCDH):c.123T>A (p.Ala41=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1609780	NM_000159.4(GCDH):c.123T>C (p.Ala41=)	GCDH, LOC117125594	Single nucleotide variant (synonymous variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 984308	NM_000159.4(GCDH):c.124A>T (p.Lys42Ter)	GCDH, LOC117125594 (K42*)	Single nucleotide variant (nonsense +1 more)	Glutaric aciduria, type 1	GLikely pathogenic
Select item 2099146	NM_000159.4(GCDH):c.127+1G>T	GCDH, LOC117125594	Single nucleotide variant (splice donor variant +1 more)	Glutaric aciduria, type 1	GPathogenic
Select item 942900	NM_000159.4(GCDH):c.127+1G>A	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 508008	NM_000159.4(GCDH):c.127+8C>T	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 1107277	NM_000159.4(GCDH):c.127+9C>T	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2766638	NM_000159.4(GCDH):c.127+16C>T	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 1546625	NM_000159.4(GCDH):c.127+16C>G	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1	GBenign
Select item 2017093	NM_000159.4(GCDH):c.127+18C>T	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 2885842	NM_000159.4(GCDH):c.127+20C>T	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	Glutaric aciduria, type 1	GLikely benign
Select item 255394	NM_000159.4(GCDH):c.127+48T>C	GCDH, LOC117125594	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign

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