ClinVar for Gene (Select 200931) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 165

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357307	NM_152672.6(SLC51A):c.278C>G (p.Ser93Trp)	SLC51A (S93W)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GUncertain significance
Select item 3357275	NM_152672.6(SLC51A):c.39-5G>A	SLC51A	Single nucleotide variant (intron variant)	SLC51A-related disorder	GLikely benign
Select item 3354299	NM_152672.6(SLC51A):c.-2C>T	SLC51A	Single nucleotide variant (5 prime UTR variant)	SLC51A-related disorder	GLikely benign
Select item 3354101	NM_152672.6(SLC51A):c.183G>A (p.Ala61=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3353765	NM_152672.6(SLC51A):c.56T>C (p.Leu19Pro)	SLC51A (L19P)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GUncertain significance
Select item 3352044	NM_152672.6(SLC51A):c.663C>T (p.Ile221=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3350757	NM_152672.6(SLC51A):c.441G>A (p.Thr147=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3320010	NM_152672.6(SLC51A):c.522G>A (p.Arg174=)	SLC51A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3320009	NM_152672.6(SLC51A):c.679G>A (p.Val227Met)	SLC51A (V227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320008	NM_152672.6(SLC51A):c.440C>T (p.Thr147Met)	SLC51A (T147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
Select item 3165170	NM_152672.6(SLC51A):c.832A>G (p.Asn278Asp)	SLC51A (N278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165169	NM_152672.6(SLC51A):c.543G>C (p.Met181Ile)	SLC51A (M181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165168	NM_152672.6(SLC51A):c.461T>C (p.Met154Thr)	SLC51A (M154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165166	NM_152672.6(SLC51A):c.134C>A (p.Ala45Asp)	SLC51A (A45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3148878	GRCh37/hg19 3q29(chr3:195739427-197340833)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 3062683	GRCh37/hg19 3q29(chr3:195792450-196145838)x3	DYNLT2B, PCYT1A +5 more	Copy number gain	not specified	GUncertain significance
Select item 3061071	NM_152672.6(SLC51A):c.522-7C>T	SLC51A	Single nucleotide variant (intron variant)	SLC51A-related disorder	GLikely benign
Select item 3060917	NM_152672.6(SLC51A):c.675T>C (p.Leu225=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GBenign
Select item 3060665	NM_152672.6(SLC51A):c.887-10T>C	SLC51A	Single nucleotide variant (intron variant)	SLC51A-related disorder	GBenign
Select item 3059296	NM_152672.6(SLC51A):c.604G>A (p.Val202Ile)	SLC51A (V202I)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GBenign
Select item 3054718	NM_152672.6(SLC51A):c.839G>A (p.Gly280Glu)	SLC51A (G280E)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GUncertain significance
Select item 3054324	NM_152672.6(SLC51A):c.781-5C>T	SLC51A	Single nucleotide variant (intron variant)	SLC51A-related disorder	GLikely benign
Select item 3054012	NM_152672.6(SLC51A):c.134-8T>C	SLC51A	Single nucleotide variant (intron variant)	SLC51A-related disorder	GLikely benign
Select item 3053923	NM_152672.6(SLC51A):c.9G>A (p.Pro3=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3052279	NM_152672.6(SLC51A):c.-6G>A	SLC51A	Single nucleotide variant (5 prime UTR variant)	SLC51A-related disorder	GLikely benign
Select item 3051925	NM_152672.6(SLC51A):c.609C>T (p.Pro203=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3051554	NM_152672.6(SLC51A):c.741G>A (p.Leu247=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3049305	NM_152672.6(SLC51A):c.655C>T (p.Leu219=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3049126	NM_152672.6(SLC51A):c.522-10C>T	SLC51A	Single nucleotide variant (intron variant)	SLC51A-related disorder	GLikely benign
Select item 3049047	NM_152672.6(SLC51A):c.134-4C>T	SLC51A	Single nucleotide variant (intron variant)	SLC51A-related disorder	GLikely benign
Select item 3048712	NM_152672.6(SLC51A):c.138G>T (p.Leu46=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3048405	NM_152672.6(SLC51A):c.372C>T (p.Ala124=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3047848	NM_152672.6(SLC51A):c.308G>C (p.Cys103Ser)	SLC51A (C103S)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GLikely benign
Select item 3047635	NM_152672.6(SLC51A):c.-1G>A	SLC51A	Single nucleotide variant (5 prime UTR variant)	SLC51A-related disorder	GLikely benign
Select item 3042726	NM_152672.6(SLC51A):c.757G>C (p.Gly253Arg)	SLC51A (G253R)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GLikely benign
Select item 3041084	NM_152672.6(SLC51A):c.135C>T (p.Ala45=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3039542	NM_152672.6(SLC51A):c.814A>G (p.Ile272Val)	SLC51A (I272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038898	NM_152672.6(SLC51A):c.904C>T (p.Leu302Phe)	SLC51A (L302F)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GLikely benign
Select item 3037753	NM_152672.6(SLC51A):c.633+8G>A	SLC51A	Single nucleotide variant (intron variant)	SLC51A-related disorder	GLikely benign
Select item 3036660	NM_152672.6(SLC51A):c.363-9C>T	SLC51A	Single nucleotide variant (intron variant)	SLC51A-related disorder	GLikely benign
Select item 3036462	NM_152672.6(SLC51A):c.722G>A (p.Arg241His)	SLC51A (R241H)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GLikely benign
Select item 3034741	NM_152672.6(SLC51A):c.7C>T (p.Pro3Ser)	SLC51A (P3S)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GLikely benign
Select item 3031006	NM_152672.6(SLC51A):c.603C>T (p.Leu201=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3030103	NM_152672.6(SLC51A):c.634-8G>T	SLC51A	Single nucleotide variant (intron variant)	SLC51A-related disorder	GLikely benign
Select item 3029963	NM_152672.6(SLC51A):c.78C>T (p.Tyr26=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 3029317	NM_152672.6(SLC51A):c.124C>T (p.Leu42Phe)	SLC51A (L42F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029115	NM_152672.6(SLC51A):c.134-12CTC[4]	SLC51A	Microsatellite (intron variant)	SLC51A-related disorder	GLikely benign
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2634583	NM_152672.6(SLC51A):c.562G>A (p.Ala188Thr)	SLC51A (A188T)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GUncertain significance
Select item 2633723	NM_152672.6(SLC51A):c.420G>T (p.Gly140=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GUncertain significance
Select item 2610427	NM_152672.6(SLC51A):c.373G>A (p.Val125Met)	SLC51A (V125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	BDH1, CEP19 +113 more	Copy number loss	See cases	GPathogenic
Select item 2486997	NM_152672.6(SLC51A):c.348A>T (p.Glu116Asp)	SLC51A (E116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467232	NM_152672.6(SLC51A):c.8C>G (p.Pro3Arg)	SLC51A (P3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460073	NM_152672.6(SLC51A):c.257G>C (p.Arg86Pro)	SLC51A (R86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458004	NM_152672.6(SLC51A):c.1012C>G (p.Leu338Val)	SLC51A (L338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	BDH1, CEP19 +26 more	Duplication	not provided	GUncertain significance
Select item 2441829	NM_152672.6(SLC51A):c.437G>A (p.Arg146Lys)	SLC51A (R146K)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 6 +1 more	GUncertain significance
Select item 2392988	NM_152672.6(SLC51A):c.269G>C (p.Trp90Ser)	SLC51A (W90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369965	NM_152672.6(SLC51A):c.217G>A (p.Val73Ile)	SLC51A (V73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369197	NM_152672.6(SLC51A):c.506G>A (p.Arg169Gln)	SLC51A (R169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350281	NM_152672.6(SLC51A):c.586C>G (p.Leu196Val)	SLC51A (L196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283614	NM_152672.6(SLC51A):c.15G>C (p.Arg5Ser)	SLC51A (R5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241883	NM_152672.6(SLC51A):c.151C>A (p.Leu51Ile)	SLC51A (L51I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219313	NM_152672.6(SLC51A):c.671T>G (p.Phe224Cys)	SLC51A (F224C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809391	GRCh37/hg19 3q29(chr3:195725291-195968808)x3	TFRC, PCYT1A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809243	GRCh37/hg19 3q29(chr3:195790857-196543483)x1	CEP19, DYNLT2B +13 more	Copy number loss	not provided	GUncertain significance
Select item 1808666	GRCh37/hg19 3q29(chr3:195690228-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703655	GRCh37/hg19 3q29(chr3:195703615-197386180)	BDH1, CEP19 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1679598	Single allele	CEP19, DLG1 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1340723	GRCh37/hg19 3q29(chr3:195914129-196804639)x1	CEP19, DLG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 1330171	GRCh37/hg19 3q29(chr3:194790394-197961930)x3	ACAP2, APOD +35 more	Copy number gain	Chromosome 3q29 microdeletion syndrome	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 1199252	NM_152672.6(SLC51A):c.556C>T (p.Gln186Ter)	SLC51A	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 6	GPathogenic
Select item 1172568	GRCh37/hg19 3q29(chr3:195693872-197376871)x3	BDH1, CEP19 +19 more	Copy number gain	See cases	Grisk factor
Select item 1015396	NC_000003.11:g.(?_195754030)_(196438852_?)dup	CEP19, DYNLT2B +11 more	Duplication	not provided	GUncertain significance
Select item 997056	GRCh37/hg19 3q29(chr3:195419168-197387258)	UBXN7, BDH1 +24 more	Copy number gain	Delayed speech and language development +1 more	GPathogenic
Select item 997046	GRCh37/hg19 3q29(chr3:195747856-197387258)	SENP5, SLC51A +19 more	Copy number gain	Motor delay +1 more	GPathogenic
Select item 988913	GRCh37/hg19 3q29(chr3:194498718-196196789)x1	ACAP2, APOD +15 more	Copy number loss	not provided	GUncertain significance
Select item 980655	GRCh37/hg19 3q29(chr3:195068028-197851986)x3	DLG1, PPP1R2 +33 more	Copy number gain	not provided	GPathogenic
Select item 830605	NC_000003.12:g.(?_196229915)_(196291374_?)dup	PCYT1A, DYNLT2B +1 more	Duplication	not provided	GUncertain significance
Select item 816511	GRCh37/hg19 3q29(chr3:195652973-197346971)x1	BDH1, WDR53 +19 more	Copy number loss	See cases	GPathogenic
Select item 814512	GRCh37/hg19 3q29(chr3:195848341-196426606)x3	UBXN7, ZDHHC19 +9 more	Copy number gain	not provided	GUncertain significance
Select item 814511	GRCh37/hg19 3q29(chr3:195796048-196145269)x3	DYNLT2B, PCYT1A +5 more	Copy number gain	not provided	GUncertain significance
Select item 783411	NM_152672.6(SLC51A):c.90C>T (p.Ser30=)	SLC51A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687286	GRCh37/hg19 3q29(chr3:195573221-196124278)x3	DYNLT2B, PCYT1A +7 more	Copy number gain	not provided	GUncertain significance
Select item 686190	GRCh37/hg19 3q29(chr3:195700698-197386180)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 686149	GRCh37/hg19 3q29(chr3:195279196-196022437)x3	APOD, DYNLT2B +9 more	Copy number gain	not provided	GUncertain significance
Select item 686054	GRCh37/hg19 3q29(chr3:195701149-197348561)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562869	GRCh37/hg19 3q29(chr3:195891339-196137752)x1	TM4SF19, ZDHHC19 +4 more	Copy number loss	not provided	GUncertain significance
Select item 562868	GRCh37/hg19 3q29(chr3:195725290-197356334)x3	RNF168, NRROS +19 more	Copy number gain	not provided	GPathogenic
Select item 562867	GRCh37/hg19 3q29(chr3:195725290-197339848)x3	DYNLT2B, MELTF +19 more	Copy number gain	not provided	GPathogenic
Select item 562866	GRCh37/hg19 3q29(chr3:195725290-197015654)x1	SLC51A, PCYT1A +18 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2