ClinVar for Gene (Select 117178) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170561	NM_001166293.2(SSX2IP):c.734G>A (p.Gly245Asp)	SSX2IP (G245D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170560	NM_001166293.2(SSX2IP):c.704C>G (p.Ala235Gly)	SSX2IP (A208G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170559	NM_001166293.2(SSX2IP):c.593T>C (p.Met198Thr)	SSX2IP (M171T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170558	NM_001166293.2(SSX2IP):c.19G>A (p.Val7Ile)	SSX2IP (V7I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170557	NM_001166293.2(SSX2IP):c.1840C>T (p.Pro614Ser)	SSX2IP (P587S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170556	NM_001166293.2(SSX2IP):c.1820A>C (p.His607Pro)	SSX2IP (H607P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170555	NM_001166293.2(SSX2IP):c.1606T>G (p.Ser536Ala)	SSX2IP (S509A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170554	NM_001166293.2(SSX2IP):c.1547A>G (p.Gln516Arg)	SSX2IP (Q516R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2600280	NM_001166293.2(SSX2IP):c.1159G>A (p.Glu387Lys)	SSX2IP (E360K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594719	NM_001166293.2(SSX2IP):c.788A>G (p.Tyr263Cys)	SSX2IP (Y236C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592704	NM_001166293.2(SSX2IP):c.146T>C (p.Val49Ala)	SSX2IP (V49A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556112	NM_001166293.2(SSX2IP):c.890A>C (p.Lys297Thr)	SSX2IP (K297T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511295	NM_001166293.2(SSX2IP):c.1649G>A (p.Arg550His)	SSX2IP (R523H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479749	NM_001166293.2(SSX2IP):c.172A>G (p.Thr58Ala)	SSX2IP (T31A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466247	NM_001166293.2(SSX2IP):c.824C>T (p.Ala275Val)	SSX2IP (A248V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465384	NM_001166293.2(SSX2IP):c.864G>T (p.Met288Ile)	SSX2IP (M288I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463040	NM_001166293.2(SSX2IP):c.1571A>G (p.Asn524Ser)	SSX2IP (N497S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407207	NM_001166293.2(SSX2IP):c.210T>G (p.Asp70Glu)	SSX2IP (D70E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406914	NM_001166293.2(SSX2IP):c.797G>A (p.Arg266His)	SSX2IP (R266H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397216	NM_001166293.2(SSX2IP):c.194G>A (p.Ser65Asn)	SSX2IP (S65N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383182	NM_001166293.2(SSX2IP):c.1352G>A (p.Arg451Gln)	SSX2IP (R424Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362164	NM_001166293.2(SSX2IP):c.125C>T (p.Ser42Leu)	SSX2IP (S15L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348202	NM_001166293.2(SSX2IP):c.1091A>C (p.His364Pro)	SSX2IP (H364P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343521	NM_001166293.2(SSX2IP):c.1544C>T (p.Pro515Leu)	SSX2IP (P488L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328682	NM_001166293.2(SSX2IP):c.1769G>C (p.Gly590Ala)	SSX2IP (G563A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325674	NM_001166293.2(SSX2IP):c.1106A>G (p.Asn369Ser)	SSX2IP (N342S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279853	NM_001166293.2(SSX2IP):c.788A>T (p.Tyr263Phe)	SSX2IP (Y263F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270911	NM_001166293.2(SSX2IP):c.40T>G (p.Ser14Ala)	SSX2IP (S14A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260871	NM_001166293.2(SSX2IP):c.1679A>G (p.Asn560Ser)	SSX2IP (N533S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246555	NM_001166293.2(SSX2IP):c.1594A>G (p.Lys532Glu)	SSX2IP (K505E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237168	NM_001166293.2(SSX2IP):c.905G>A (p.Arg302Lys)	SSX2IP (R275K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226015	NM_001166293.2(SSX2IP):c.1529T>C (p.Val510Ala)	SSX2IP (V483A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204351	NM_001166293.2(SSX2IP):c.1450A>G (p.Thr484Ala)	SSX2IP (T457A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 46