SLC51A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	LOC129938284, LOC129938285 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59981	GRCh38/hg38 3q29(chr3:195755702-197583580)x3	LOC129938303, LOC129938304 +133 more	Copy number gain	See cases	GPathogenic
Select item 1679598	Single allele	LOC129938264, LOC129938265 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 59686	GRCh38/hg38 3q29(chr3:195896948-198110178)x3	BDH1, CEP19 +155 more	Copy number gain	See cases	GUncertain significance
Select item 59687	GRCh38/hg38 3q29(chr3:195917073-196336765)x3	DYNLT2B, LINC00885 +41 more	Copy number gain	See cases	GUncertain significance
Select item 545293	Single allele	LOC123464504, LOC129938307 +114 more	Duplication	Autism	GLikely pathogenic
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	BDH1, CEP19 +113 more	Copy number loss	See cases	GPathogenic
Select item 149940	GRCh38/hg38 3q29(chr3:195955711-197597912)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 155422	GRCh38/hg38 3q29(chr3:195963356-197629463)x3	FBXO45, LINC00885 +110 more	Copy number gain	See cases	GUncertain significance
Select item 59982	GRCh38/hg38 3q29(chr3:195965316-197625573)x3	BDH1, CEP19 +109 more	Copy number gain	See cases	GPathogenic
Select item 59983	GRCh38/hg38 3q29(chr3:195972720-197658495)x3	BDH1, CEP19 +113 more	Copy number gain	See cases	GPathogenic
Select item 148628	GRCh38/hg38 3q29(chr3:195974291-197597912)x1	NRROS, PAK2 +109 more	Copy number loss	See cases	GPathogenic
Select item 153972	GRCh38/hg38 3q29(chr3:195976744-197629463)x1	BDH1, CEP19 +110 more	Copy number loss	See cases	GPathogenic
Select item 545294	NC_000003.12:g.(?_195990063)_(197617301_?)del	LOC123464504, LOC123464505 +108 more	Deletion	Schizophrenia	GPathogenic
Select item 59984	GRCh38/hg38 3q29(chr3:195997494-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 153314	GRCh38/hg38 3q29(chr3:195998419-197629463)x3	BDH1, CEP19 +108 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160933	GRCh38/hg38 3q29(chr3:196013486-197590232)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 160885	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 154986	GRCh38/hg38 3q29(chr3:196013486-197597912)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 152467	GRCh38/hg38 3q29(chr3:196013486-197612399)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 57328	GRCh38/hg38 3q29(chr3:196013486-197503306)x3	CEP19, DLG1 +102 more	Copy number gain	See cases	GPathogenic
Select item 34369	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	LOC129938306, LOC129938307 +107 more	Copy number loss	See cases	GPathogenic
Select item 149576	GRCh38/hg38 3q29(chr3:196013531-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59986	GRCh38/hg38 3q29(chr3:196035777-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 59985	GRCh38/hg38 3q29(chr3:196035777-197606438)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 59289	GRCh38/hg38 3q29(chr3:196035777-197625573)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59288	GRCh38/hg38 3q29(chr3:196035777-197658540)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 57492	GRCh38/hg38 3q29(chr3:196077857-197165715)x1	CEP19, DLG1 +89 more	Copy number loss	See cases	GPathogenic
Select item 545295	NC_000003.12:g.(?_196154147)_(197376501_?)del	CEP19, DLG1 +85 more	Deletion	Schizophrenia	GPathogenic
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 3354299	NM_152672.6(SLC51A):c.-2C>T	SLC51A	Single nucleotide variant (5 prime UTR 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 3034741	NM_152672.6(SLC51A):c.7C>T (p.Pro3Ser)	SLC51A (P3S)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GLikely benign
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 3053923	NM_152672.6(SLC51A):c.9G>A (p.Pro3=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
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 3357275	NM_152672.6(SLC51A):c.39-5G>A	SLC51A	Single nucleotide variant (intron 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 3029963	NM_152672.6(SLC51A):c.78C>T (p.Tyr26=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
Select item 783411	NM_152672.6(SLC51A):c.90C>T (p.Ser30=)	SLC51A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3054012	NM_152672.6(SLC51A):c.134-8T>C	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 3165166	NM_152672.6(SLC51A):c.134C>A (p.Ala45Asp)	SLC51A (A45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3048712	NM_152672.6(SLC51A):c.138G>T (p.Leu46=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
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 3354101	NM_152672.6(SLC51A):c.183G>A (p.Ala61=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
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 2460073	NM_152672.6(SLC51A):c.257G>C (p.Arg86Pro)	SLC51A (R86P)	Single nucleotide variant (missense variant)	not specified	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 3357307	NM_152672.6(SLC51A):c.278C>G (p.Ser93Trp)	SLC51A (S93W)	Single nucleotide variant (missense variant)	SLC51A-related disorder	GUncertain significance
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 2486997	NM_152672.6(SLC51A):c.348A>T (p.Glu116Asp)	SLC51A (E116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036660	NM_152672.6(SLC51A):c.363-9C>T	SLC51A	Single nucleotide variant (intron 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 2610427	NM_152672.6(SLC51A):c.373G>A (p.Val125Met)	SLC51A (V125M)	Single nucleotide variant (missense variant)	not specified	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 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 3320008	NM_152672.6(SLC51A):c.440C>T (p.Thr147Met)	SLC51A (T147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3165168	NM_152672.6(SLC51A):c.461T>C (p.Met154Thr)	SLC51A (M154T)	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 3049126	NM_152672.6(SLC51A):c.522-10C>T	SLC51A	Single nucleotide variant (intron variant)	SLC51A-related disorder	GLikely benign
Select item 3061071	NM_152672.6(SLC51A):c.522-7C>T	SLC51A	Single nucleotide variant (intron 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 3165169	NM_152672.6(SLC51A):c.543G>C (p.Met181Ile)	SLC51A (M181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2634583	NM_152672.6(SLC51A):c.562G>A (p.Ala188Thr)	SLC51A (A188T)	Single nucleotide variant (missense variant)	SLC51A-related disorder	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 3031006	NM_152672.6(SLC51A):c.603C>T (p.Leu201=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GLikely benign
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 3051925	NM_152672.6(SLC51A):c.609C>T (p.Pro203=)	SLC51A	Single nucleotide variant (synonymous 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 3030103	NM_152672.6(SLC51A):c.634-8G>T	SLC51A	Single nucleotide variant (intron 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 3352044	NM_152672.6(SLC51A):c.663C>T (p.Ile221=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	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 3060917	NM_152672.6(SLC51A):c.675T>C (p.Leu225=)	SLC51A	Single nucleotide variant (synonymous variant)	SLC51A-related disorder	GBenign
Select item 3320009	NM_152672.6(SLC51A):c.679G>A (p.Val227Met)	SLC51A (V227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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