SSH2[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 781361	NM_001282129.2(SSH2):c.4344T>C (p.Asn1448=)	SSH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2612163	NM_001282129.2(SSH2):c.4318A>G (p.Lys1440Glu)	SSH2 (K1413E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539073	NM_001282129.2(SSH2):c.4201G>A (p.Val1401Met)	SSH2 (V1401M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2517916	NM_001282129.2(SSH2):c.4133G>A (p.Gly1378Asp)	SSH2 (G1378D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781362	NM_001282129.2(SSH2):c.4015G>A (p.Gly1339Ser)	SSH2 (G1312S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2299114	NM_001282129.2(SSH2):c.3942A>T (p.Lys1314Asn)	SSH2 (K1287N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247958	NM_001282129.2(SSH2):c.3875A>G (p.Tyr1292Cys)	SSH2 (Y1292C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347569	NM_001282129.2(SSH2):c.3862G>A (p.Ala1288Thr)	SSH2 (A1261T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227355	NM_001282129.2(SSH2):c.3848G>A (p.Arg1283His)	SSH2 (R1256H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510691	NM_001282129.2(SSH2):c.3847C>T (p.Arg1283Cys)	SSH2 (R1283C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596376	NM_001282129.2(SSH2):c.3784G>T (p.Ala1262Ser)	SSH2 (A1235S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329132	NM_001282129.2(SSH2):c.3766G>A (p.Gly1256Ser)	SSH2 (G1229S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2619008	NM_001282129.2(SSH2):c.3706G>A (p.Ala1236Thr)	SSH2 (A1209T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282963	NM_001282129.2(SSH2):c.3521G>A (p.Ser1174Asn)	SSH2 (S1174N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778686	NM_001282129.2(SSH2):c.3422C>G (p.Ala1141Gly)	SSH2 (A1141G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2359747	NM_001282129.2(SSH2):c.3403T>C (p.Ser1135Pro)	SSH2 (S1108P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381101	NM_001282129.2(SSH2):c.3361A>T (p.Thr1121Ser)	SSH2 (T1121S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313506	NM_001282129.2(SSH2):c.3331C>T (p.Pro1111Ser)	SSH2 (P1084S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271098	NM_001282129.2(SSH2):c.3311C>A (p.Pro1104His)	SSH2 (P1104H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507930	NM_001282129.2(SSH2):c.3281A>G (p.Asn1094Ser)	SSH2 (N1067S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245520	NM_001282129.2(SSH2):c.3239T>A (p.Leu1080His)	SSH2 (L1053H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281426	NM_001282129.2(SSH2):c.3148C>G (p.His1050Asp)	SSH2 (H1050D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541454	NM_001282129.2(SSH2):c.3146A>G (p.Asn1049Ser)	SSH2 (N1022S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281425	NM_001282129.2(SSH2):c.3143C>T (p.Pro1048Leu)	SSH2 (P1021L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610032	NM_001282129.2(SSH2):c.3082G>T (p.Val1028Phe)	SSH2 (V1001F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404627	NM_001282129.2(SSH2):c.3076C>G (p.Gln1026Glu)	SSH2 (Q1026E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550915	NM_001282129.2(SSH2):c.3041T>G (p.Leu1014Arg)	SSH2 (L1014R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324360	NM_001282129.2(SSH2):c.2816G>A (p.Gly939Glu)	SSH2 (G939E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249038	NM_001282129.2(SSH2):c.2768G>A (p.Arg923His)	SSH2 (R923H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372469	NM_001282129.2(SSH2):c.2732A>G (p.His911Arg)	SSH2 (H884R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372568	NM_001282129.2(SSH2):c.2668C>T (p.Pro890Ser)	SSH2 (P863S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391847	NM_001282129.2(SSH2):c.2513C>G (p.Thr838Arg)	SSH2 (T811R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341221	NM_001282129.2(SSH2):c.2493G>T (p.Glu831Asp)	SSH2 (E804D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404384	NM_001282129.2(SSH2):c.2459C>T (p.Ala820Val)	SSH2 (A793V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392674	NM_001282129.2(SSH2):c.2191C>A (p.Gln731Lys)	SSH2 (Q704K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521744	NM_001282129.2(SSH2):c.2087G>A (p.Arg696Gln)	SSH2 (R669Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399176	NM_001282129.2(SSH2):c.2051A>G (p.Glu684Gly)	SSH2 (E684G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367361	NM_001282129.2(SSH2):c.2013T>G (p.Asp671Glu)	SSH2 (D671E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552243	NM_001282129.2(SSH2):c.1947C>A (p.Asp649Glu)	SSH2 (D622E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347033	NM_001282129.2(SSH2):c.1817C>G (p.Pro606Arg)	SSH2 (P579R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404067	NM_001282129.2(SSH2):c.1736A>G (p.Asn579Ser)	SSH2 (N552S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594062	NM_001282129.2(SSH2):c.1570A>T (p.Met524Leu)	SSH2 (M524L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495869	NM_001282129.2(SSH2):c.1482C>G (p.Asp494Glu)	SSH2 (D494E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520238	NM_001282129.2(SSH2):c.1351G>A (p.Glu451Lys)	SSH2 (E424K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768866	NM_001282129.2(SSH2):c.744T>C (p.Asn248=)	SSH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2516041	NM_001282129.2(SSH2):c.659C>T (p.Ala220Val)	SSH2 (A220V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356212	NM_001282129.2(SSH2):c.493A>G (p.Met165Val)	SSH2 (M138V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263209	NM_001282129.2(SSH2):c.448G>A (p.Val150Ile)	SSH2 (V150I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487060	NM_001282129.2(SSH2):c.335G>T (p.Arg112Leu)	SSH2 (R85L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351177	NM_001282129.2(SSH2):c.304C>G (p.Gln102Glu)	SSH2 (Q82E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	ABHD15, ADAP2 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 980157	GRCh37/hg19 17q11.2(chr17:27573641-28206747)x3	TAOK1, SSH2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 61