ClinVar for Gene (Select 8435) - ClinVar

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

Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321377	NM_003578.4(SOAT2):c.942C>G (p.Ile314Met)	SOAT2 (I314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321376	NM_003578.4(SOAT2):c.1169A>C (p.Tyr390Ser)	SOAT2 (Y390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321375	NM_003578.4(SOAT2):c.135G>A (p.Met45Ile)	SOAT2 (M45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321374	NM_003578.4(SOAT2):c.61G>A (p.Glu21Lys)	SOAT2 (E21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321372	NM_003578.4(SOAT2):c.1072T>C (p.Phe358Leu)	SOAT2 (F358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321371	NM_003578.4(SOAT2):c.574A>T (p.Thr192Ser)	SOAT2 (T192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321370	NM_003578.4(SOAT2):c.1541C>T (p.Thr514Ile)	SOAT2 (T514I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321369	NM_003578.4(SOAT2):c.608T>C (p.Leu203Pro)	SOAT2 (L203P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321368	NM_003578.4(SOAT2):c.65G>A (p.Arg22His)	SOAT2 (R22H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321367	NM_003578.4(SOAT2):c.1001G>A (p.Arg334His)	SOAT2 (R334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321366	NM_003578.4(SOAT2):c.1091A>T (p.Asn364Ile)	SOAT2 (N364I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167375	NM_003578.4(SOAT2):c.976A>G (p.Met326Val)	SOAT2 (M326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167374	NM_003578.4(SOAT2):c.557G>A (p.Arg186Gln)	SOAT2 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167373	NM_003578.4(SOAT2):c.364A>G (p.Thr122Ala)	SOAT2 (T122A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167372	NM_003578.4(SOAT2):c.1423G>A (p.Val475Met)	SOAT2 (V475M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167371	NM_003578.4(SOAT2):c.13G>A (p.Gly5Arg)	SOAT2 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167370	NM_003578.4(SOAT2):c.137A>C (p.Glu46Ala)	SOAT2 (E46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167369	NM_003578.4(SOAT2):c.1320C>A (p.Phe440Leu)	SOAT2 (F440L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167368	NM_003578.4(SOAT2):c.1183A>G (p.Asn395Asp)	SOAT2 (N395D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167367	NM_003578.4(SOAT2):c.1104G>T (p.Glu368Asp)	SOAT2 (E368D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167366	NM_003578.4(SOAT2):c.107C>T (p.Pro36Leu)	SOAT2 (P36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167365	NM_003578.4(SOAT2):c.1079A>G (p.His360Arg)	SOAT2 (H360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167364	NM_003578.4(SOAT2):c.1003G>A (p.Ala335Thr)	SOAT2 (A335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063260	GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	AAAS, AMHR2 +19 more	Copy number gain	not specified	GUncertain significance
Select item 2609413	NM_003578.4(SOAT2):c.620A>G (p.His207Arg)	SOAT2 (H207R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596784	NM_003578.4(SOAT2):c.1031C>T (p.Thr344Met)	SOAT2 (T344M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591432	NM_003578.4(SOAT2):c.1496G>A (p.Arg499Gln)	SOAT2 (R499Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536086	NM_003578.4(SOAT2):c.173G>C (p.Gly58Ala)	SOAT2 (G58A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526390	NM_003578.4(SOAT2):c.281A>T (p.Gln94Leu)	SOAT2 (Q94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524083	NM_003578.4(SOAT2):c.167C>T (p.Ala56Val)	SOAT2 (A56V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511319	NM_003578.4(SOAT2):c.197G>A (p.Arg66Gln)	SOAT2 (R66Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476892	NM_003578.4(SOAT2):c.77G>A (p.Gly26Glu)	SOAT2 (G26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469180	NM_003578.4(SOAT2):c.349G>A (p.Val117Met)	SOAT2 (V117M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466323	NM_003578.4(SOAT2):c.632T>A (p.Leu211His)	SOAT2 (L211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464444	NM_003578.4(SOAT2):c.766C>T (p.Arg256Cys)	SOAT2 (R256C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462323	NM_003578.4(SOAT2):c.1070C>A (p.Ala357Asp)	SOAT2 (A357D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460096	NM_003578.4(SOAT2):c.640C>G (p.Leu214Val)	SOAT2 (L214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459265	NM_003578.4(SOAT2):c.454G>A (p.Glu152Lys)	SOAT2 (E152K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387468	NM_003578.4(SOAT2):c.1408G>A (p.Gly470Ser)	SOAT2 (G470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373573	NM_003578.4(SOAT2):c.613G>C (p.Ala205Pro)	SOAT2 (A205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371459	NM_003578.4(SOAT2):c.590C>T (p.Thr197Met)	SOAT2 (T197M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340426	NM_003578.4(SOAT2):c.481G>C (p.Gly161Arg)	SOAT2 (G161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337829	NM_003578.4(SOAT2):c.49G>A (p.Gly17Arg)	SOAT2 (G17R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311275	NM_003578.4(SOAT2):c.218A>C (p.Gln73Pro)	SOAT2 (Q73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285124	NM_003578.4(SOAT2):c.1415C>T (p.Ala472Val)	SOAT2 (A472V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275100	NM_003578.4(SOAT2):c.361C>T (p.Arg121Cys)	SOAT2 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260260	NM_003578.4(SOAT2):c.1154C>T (p.Thr385Met)	SOAT2 (T385M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247785	NM_003578.4(SOAT2):c.779G>T (p.Gly260Val)	SOAT2 (G260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239034	NM_003578.4(SOAT2):c.905C>G (p.Ala302Gly)	SOAT2 (A302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209930	NM_003578.4(SOAT2):c.73T>C (p.Cys25Arg)	SOAT2 (C25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301653	NM_003578.4(SOAT2):c.1017_1020del (p.Ile340fs)	SOAT2 (I340fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 980438	GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	PCBP2, SP7 +17 more	Copy number loss	not provided	GUncertain significance
Select item 787400	NM_003578.4(SOAT2):c.1206G>C (p.Leu402=)	SOAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787399	NM_003578.4(SOAT2):c.201C>T (p.Ala67=)	SOAT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733487	NM_003578.4(SOAT2):c.1250G>A (p.Arg417Gln)	SOAT2 (R417Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221489	GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3	ZNF740, ITGB7 +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 64