6714[geneid] - ClinVar

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Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 98523	NM_198291.3(SRC):c.12C>T (p.Asn4=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98524	NM_198291.3(SRC):c.61G>A (p.Ala21Thr)	SRC (A21T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98525	NM_198291.3(SRC):c.85G>T (p.Gly29Trp)	SRC (G29W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1239174	NM_198291.3(SRC):c.250+211A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281875	NM_198291.3(SRC):c.250+217A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236716	NM_198291.3(SRC):c.250+219A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288138	NM_198291.3(SRC):c.250+223A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269563	NM_198291.3(SRC):c.250+235T>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271503	NM_198291.3(SRC):c.250+237A>T	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266384	NM_198291.3(SRC):c.250+238T>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235100	NM_198291.3(SRC):c.250+243T>C	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276301	NM_198291.3(SRC):c.250+247A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262217	NM_198291.3(SRC):c.250+249T>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226484	NM_198291.3(SRC):c.250+257T>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268676	NM_198291.3(SRC):c.250+259A>G	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275298	NM_198291.3(SRC):c.250+265_250+268del	SRC	Deletion (intron variant)	not provided	GBenign
Select item 1262847	NM_198291.3(SRC):c.250+270_250+271insG	SRC	Insertion (intron variant)	not provided	GBenign
Select item 1244367	NM_198291.3(SRC):c.250+274A>G	LOC130065826, SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259109	NM_198291.3(SRC):c.250+286dup	LOC130065826, SRC	Duplication (intron variant)	not provided	GBenign
Select item 1268183	NM_198291.3(SRC):c.250+297T>C	LOC130065826, SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182919	NM_198291.3(SRC):c.250+306del	SRC, LOC130065826	Deletion (intron variant)	not provided	GBenign
Select item 2475250	NM_198291.3(SRC):c.296C>T (p.Thr99Met)	SRC (T99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477836	NM_198291.3(SRC):c.327G>T (p.Glu109Asp)	SRC (E109D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714899	NM_198291.3(SRC):c.387A>G (p.Thr129=)	SRC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3067299	NM_198291.3(SRC):c.423G>A (p.Ala141=)	SRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795540	NM_198291.3(SRC):c.429C>T (p.Ser143=)	SRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708134	NM_198291.3(SRC):c.449+9C>T	SRC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3352888	NM_198291.3(SRC):c.450-8A>T	SRC	Single nucleotide variant (intron variant)	SRC-related disorder	GLikely benign
Select item 2388133	NM_198291.3(SRC):c.475C>T (p.Arg159Trp)	SRC (R159W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033317	NM_198291.3(SRC):c.525C>T (p.Phe175=)	SRC	Single nucleotide variant (synonymous variant)	SRC-related disorder	GLikely benign
Select item 3169832	NM_198291.3(SRC):c.529G>T (p.Val177Leu)	SRC (V177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337663	NM_198291.3(SRC):c.553+9G>T	SRC	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 777572	NM_198291.3(SRC):c.554-5C>T	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3050520	NM_198291.3(SRC):c.561C>T (p.Tyr187=)	SRC	Single nucleotide variant (synonymous variant)	SRC-related disorder	GLikely benign
Select item 1337115	NM_198291.3(SRC):c.582C>T (p.Phe194=)	SRC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3358112	NM_198291.3(SRC):c.588C>T (p.Asn196=)	SRC	Single nucleotide variant (synonymous variant)	SRC-related disorder	GLikely benign
Select item 3043475	NM_198291.3(SRC):c.636C>T (p.Ser212=)	SRC	Single nucleotide variant (synonymous variant)	SRC-related disorder	GLikely benign
Select item 98526	NM_198291.3(SRC):c.642C>T (p.Gly214=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 747464	NM_198291.3(SRC):c.684G>A (p.Gln228=)	SRC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 98527	NM_198291.3(SRC):c.727C>T (p.Arg243Cys)	SRC (R243C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2310404	NM_198291.3(SRC):c.811C>T (p.Arg271Trp)	SRC (R271W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98528	NM_198291.3(SRC):c.846C>T (p.Gly282=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3042787	NM_198291.3(SRC):c.849G>A (p.Glu283=)	SRC	Single nucleotide variant (synonymous variant)	SRC-related disorder	GLikely benign
Select item 2614414	NM_198291.3(SRC):c.869A>G (p.Asn290Ser)	SRC (N290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169833	NM_198291.3(SRC):c.871G>T (p.Gly291Cys)	SRC (G291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1124551	NM_198291.3(SRC):c.875C>A (p.Thr292Asn)	SRC (T292N)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2619551	NM_198291.3(SRC):c.890T>C (p.Ile297Thr)	SRC (I297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584809	NM_198291.3(SRC):c.919C>T (p.Pro307Ser)	SRC (P307S)	Single nucleotide variant (missense variant)	Thrombocytopenia 6	GUncertain significance
Select item 727273	NM_198291.3(SRC):c.930C>T (p.Phe310=)	SRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2234627	NM_198291.3(SRC):c.1018G>A (p.Val340Ile)	SRC (V340I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252895	NM_198291.3(SRC):c.1039+5G>C	SRC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1272399	NM_198291.3(SRC):c.1117-180C>T	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725075	NM_198291.3(SRC):c.1117-9C>T	SRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 714817	NM_198291.3(SRC):c.1128C>A (p.Gly376=)	SRC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777573	NM_198291.3(SRC):c.1134G>A (p.Ala378=)	SRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 742883	NM_198291.3(SRC):c.1143G>A (p.Glu381=)	SRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 100851	NM_198291.3(SRC):c.1200C>G (p.Asn400Lys)	SRC (N400K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 98529	NM_198291.3(SRC):c.1200C>T (p.Asn400=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 734030	NM_198291.3(SRC):c.1224T>C (p.Phe408=)	SRC	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 98530	NM_198291.3(SRC):c.1239C>T (p.Leu413=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3252560	NM_198291.3(SRC):c.1250_1253del (p.Asn417fs)	SRC (N417fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 719597	NM_198291.3(SRC):c.1254G>A (p.Glu418=)	SRC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 98531	NM_198291.3(SRC):c.1263G>A (p.Ala421=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 1268247	NM_198291.3(SRC):c.1271-55=	SRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 98532	NM_198291.3(SRC):c.1323C>A (p.Arg441=)	SRC	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98533	NM_198291.3(SRC):c.1387C>T (p.Arg463Trp)	SRC (R463W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2548214	NM_198291.3(SRC):c.1439G>A (p.Arg480Gln)	SRC (R480Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322569	NM_198291.3(SRC):c.1460C>T (p.Pro487Leu)	SRC (P487L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713171	NM_198291.3(SRC):c.1467G>A (p.Glu489=)	SRC	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 98534	NM_198291.3(SRC):c.1474G>A (p.Glu492Lys)	SRC (E492K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322570	NM_198291.3(SRC):c.1513G>C (p.Glu505Gln)	SRC (E505Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 225689	NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)	SRC (E527K)	Single nucleotide variant (missense variant)	Thrombocytopenia 6	GLikely pathogenic
Select item 2572134	NM_198291.3(SRC):c.1585C>G (p.Gln529Glu)	SRC (Q529E)	Single nucleotide variant (missense variant)	Thrombocytopenia 6	GUncertain significance
Select item 12573	NM_198291.3(SRC):c.1591C>T (p.Gln531Ter)	SRC (Q531*)	Single nucleotide variant (nonsense)	Neoplasm +1 more	GPathogenic/Likely pathogenic
Select item 3047023	NM_198291.3(SRC):c.1596C>G (p.Pro532=)	SRC	Single nucleotide variant (synonymous variant)	SRC-related disorder	GLikely benign
Select item 741406	NM_198291.3(SRC):c.1596C>T (p.Pro532=)	SRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2426164	NC_000020.10:g.(?_35569422)_(36500415_?)dup	BLCAP, CTNNBL1 +8 more	Duplication	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 83