ClinVar for Gene (Select 374897) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158093	NM_001166034.2(SBSN):c.830A>C (p.Lys277Thr)	SBSN (K277T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158091	NM_001166034.2(SBSN):c.499G>C (p.Ala167Pro)	SBSN (A167P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158090	NM_001166034.2(SBSN):c.316G>A (p.Gly106Arg)	SBSN (G106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158089	NM_001166034.2(SBSN):c.176C>T (p.Thr59Met)	SBSN (T59M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158088	NM_001166034.2(SBSN):c.1509C>A (p.Asp503Glu)	SBSN (D160E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158087	NM_001166034.2(SBSN):c.1472C>T (p.Ala491Val)	SBSN (A148V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158086	NM_001166034.2(SBSN):c.1427C>A (p.Ala476Glu)	SBSN (A133E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158085	NM_001166034.2(SBSN):c.1255G>T (p.Ala419Ser)	SBSN (A419S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158084	NM_001166034.2(SBSN):c.1246G>A (p.Gly416Arg)	SBSN (G416R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158083	NM_001166034.2(SBSN):c.1069G>A (p.Ala357Thr)	SBSN (A357T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158082	NM_001166034.2(SBSN):c.1060G>A (p.Val354Ile)	SBSN (V354I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2649721	NM_001166034.2(SBSN):c.489_542del (p.174VHHAAGQAGNEAGRFGQG[1])	SBSN	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2649720	NM_001166034.2(SBSN):c.858T>C (p.Ala286=)	SBSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2609218	NM_001166034.2(SBSN):c.677A>G (p.Gln226Arg)	SBSN (Q226R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533943	NM_001166034.2(SBSN):c.1064A>C (p.His355Pro)	SBSN (H355P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514584	NM_001166034.2(SBSN):c.1274A>G (p.Asp425Gly)	SBSN (D425G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2475130	NM_001166034.2(SBSN):c.596C>T (p.Ala199Val)	SBSN (A199V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470851	NM_001166034.2(SBSN):c.1085G>A (p.Gly362Glu)	SBSN (G362E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468803	NM_001166034.2(SBSN):c.1511A>T (p.Gln504Leu)	SBSN (Q161L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2409711	NM_001166034.2(SBSN):c.79G>A (p.Asp27Asn)	SBSN (D27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404919	NM_001166034.2(SBSN):c.943G>A (p.Gly315Ser)	SBSN (G315S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387454	NM_001166034.2(SBSN):c.989G>A (p.Gly330Glu)	SBSN (G330E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2383707	NM_001166034.2(SBSN):c.1427C>T (p.Ala476Val)	SBSN (A133V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2368575	NM_001166034.2(SBSN):c.488C>G (p.Ala163Gly)	SBSN (A163G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364897	NM_001166034.2(SBSN):c.1476G>T (p.Glu492Asp)	SBSN (E149D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362864	NM_001166034.2(SBSN):c.1576G>A (p.Glu526Lys)	SBSN (E183K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348996	NM_001166034.2(SBSN):c.203T>C (p.Val68Ala)	SBSN (V68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345948	NM_001166034.2(SBSN):c.698G>C (p.Gly233Ala)	SBSN (G233A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331857	NM_001166034.2(SBSN):c.172A>G (p.Ile58Val)	SBSN (I58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312183	NM_001166034.2(SBSN):c.1228C>G (p.His410Asp)	SBSN (H410D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270114	NM_001166034.2(SBSN):c.287A>G (p.Lys96Arg)	SBSN (K96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262488	NM_001166034.2(SBSN):c.640C>T (p.Leu214Phe)	SBSN (L214F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258382	NM_001166034.2(SBSN):c.760G>A (p.Gly254Arg)	SBSN (G254R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247715	NM_001166034.2(SBSN):c.652T>C (p.Trp218Arg)	SBSN (W218R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245421	NM_001166034.2(SBSN):c.1021A>G (p.Ser341Gly)	SBSN (S341G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2241877	NM_001166034.2(SBSN):c.44T>C (p.Leu15Pro)	SBSN (L15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238162	NM_001166034.2(SBSN):c.1532A>G (p.Lys511Arg)	SBSN (K168R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232008	NM_001166034.2(SBSN):c.964G>A (p.Ala322Thr)	SBSN (A322T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226010	NM_001166034.2(SBSN):c.752G>A (p.Gly251Glu)	SBSN (G251E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210211	NM_001166034.2(SBSN):c.170G>A (p.Gly57Glu)	SBSN (G57E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 785619	NM_001166034.2(SBSN):c.1750-6T>C	SBSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685279	GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1	ATP4A, CD22 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 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

ClinVar

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Links from Gene

Items: 58