ClinVar for Gene (Select 80725) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322592	NM_025248.3(SRCIN1):c.714C>A (p.Asn238Lys)	SRCIN1 (N238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322591	NM_025248.3(SRCIN1):c.3271A>G (p.Ser1091Gly)	SRCIN1 (S1091G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322590	NM_025248.3(SRCIN1):c.2471A>G (p.Gln824Arg)	SRCIN1 (Q824R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322589	NM_025248.3(SRCIN1):c.1616C>A (p.Pro539His)	SRCIN1 (P539H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322588	NM_025248.3(SRCIN1):c.2203G>A (p.Asp735Asn)	SRCIN1 (D735N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322587	NM_025248.3(SRCIN1):c.3130G>A (p.Glu1044Lys)	SRCIN1 (E1044K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322586	NM_025248.3(SRCIN1):c.1447G>T (p.Ala483Ser)	SRCIN1 (A483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322585	NM_025248.3(SRCIN1):c.2946T>G (p.Ser982Arg)	SRCIN1 (S982R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3169881	NM_025248.3(SRCIN1):c.94G>C (p.Gly32Arg)	SRCIN1 (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169880	NM_025248.3(SRCIN1):c.596A>T (p.Glu199Val)	SRCIN1 (E199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169878	NM_025248.3(SRCIN1):c.3406G>A (p.Ala1136Thr)	SRCIN1 (A1136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169877	NM_025248.3(SRCIN1):c.3358G>A (p.Asp1120Asn)	SRCIN1 (D1120N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169876	NM_025248.3(SRCIN1):c.3347C>T (p.Ala1116Val)	SRCIN1 (A1116V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169875	NM_025248.3(SRCIN1):c.3322C>T (p.Arg1108Trp)	SRCIN1 (R1108W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169874	NM_025248.3(SRCIN1):c.3217G>C (p.Ala1073Pro)	SRCIN1 (A1073P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169873	NM_025248.3(SRCIN1):c.2794C>T (p.Arg932Trp)	SRCIN1 (R932W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169872	NM_025248.3(SRCIN1):c.2603C>T (p.Pro868Leu)	SRCIN1 (P868L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169871	NM_025248.3(SRCIN1):c.250A>G (p.Met84Val)	SRCIN1 (M84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169870	NM_025248.3(SRCIN1):c.2452G>T (p.Val818Phe)	SRCIN1 (V818F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169869	NM_025248.3(SRCIN1):c.233G>A (p.Arg78His)	SRCIN1 (R78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169868	NM_025248.3(SRCIN1):c.2282A>C (p.Glu761Ala)	SRCIN1 (E761A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169867	NM_025248.3(SRCIN1):c.2275C>G (p.Leu759Val)	SRCIN1 (L759V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169865	NM_025248.3(SRCIN1):c.1903A>C (p.Ser635Arg)	SRCIN1 (S635R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169864	NM_025248.3(SRCIN1):c.181G>A (p.Ala61Thr)	SRCIN1 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169863	NM_025248.3(SRCIN1):c.1794C>T (p.Ser598=)	SRCIN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3169862	NM_025248.3(SRCIN1):c.1486T>G (p.Ser496Ala)	SRCIN1 (S496A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647703	NM_025248.3(SRCIN1):c.1236G>A (p.Ala412=)	SRCIN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2647702	NM_025248.3(SRCIN1):c.3270+719G>A	SRCIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2595654	NM_025248.3(SRCIN1):c.1261C>G (p.Pro421Ala)	SRCIN1 (P421A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556293	NM_025248.3(SRCIN1):c.2615A>G (p.His872Arg)	SRCIN1 (H872R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541854	NM_025248.3(SRCIN1):c.1151C>T (p.Ala384Val)	SRCIN1 (A384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526096	NM_025248.3(SRCIN1):c.3299A>G (p.Lys1100Arg)	SRCIN1 (K1100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525735	NM_025248.3(SRCIN1):c.3190C>T (p.Arg1064Cys)	SRCIN1 (R1064C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520410	NM_025248.3(SRCIN1):c.2987G>A (p.Arg996His)	SRCIN1 (R996H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493972	NM_025248.3(SRCIN1):c.2780C>A (p.Ala927Asp)	SRCIN1 (A927D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493044	NM_025248.3(SRCIN1):c.631G>A (p.Ala211Thr)	SRCIN1 (A211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484074	NM_025248.3(SRCIN1):c.1601C>G (p.Ser534Trp)	SRCIN1 (S534W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482475	NM_025248.3(SRCIN1):c.1648C>T (p.Arg550Cys)	SRCIN1 (R550C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478181	NM_025248.3(SRCIN1):c.373G>A (p.Ala125Thr)	SRCIN1 (A125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458078	NM_025248.3(SRCIN1):c.2629C>T (p.Pro877Ser)	SRCIN1 (P877S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406815	NM_025248.3(SRCIN1):c.1870A>C (p.Thr624Pro)	SRCIN1 (T624P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389463	NM_025248.3(SRCIN1):c.1913C>T (p.Pro638Leu)	SRCIN1 (P638L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372885	NM_025248.3(SRCIN1):c.1060G>A (p.Gly354Ser)	SRCIN1 (G354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372207	NM_025248.3(SRCIN1):c.2647C>T (p.Leu883Phe)	SRCIN1 (L883F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361756	NM_025248.3(SRCIN1):c.40C>T (p.Pro14Ser)	SRCIN1 (P14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361255	NM_025248.3(SRCIN1):c.40C>G (p.Pro14Ala)	SRCIN1 (P14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355900	NM_025248.3(SRCIN1):c.2304G>T (p.Gln768His)	SRCIN1 (Q768H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355690	NM_025248.3(SRCIN1):c.40C>A (p.Pro14Thr)	SRCIN1 (P14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349127	NM_025248.3(SRCIN1):c.1225A>G (p.Ser409Gly)	SRCIN1 (S409G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344787	NM_025248.3(SRCIN1):c.14C>A (p.Pro5Gln)	SRCIN1 (P5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341530	NM_025248.3(SRCIN1):c.2546C>T (p.Thr849Met)	SRCIN1 (T849M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340748	NM_025248.3(SRCIN1):c.2549C>T (p.Ala850Val)	SRCIN1 (A850V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339442	NM_025248.3(SRCIN1):c.118G>C (p.Gly40Arg)	SRCIN1 (G40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337908	NM_025248.3(SRCIN1):c.47T>A (p.Met16Lys)	SRCIN1 (M16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334549	NM_025248.3(SRCIN1):c.3067C>T (p.Arg1023Cys)	SRCIN1 (R1023C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325764	NM_025248.3(SRCIN1):c.1828C>T (p.Pro610Ser)	SRCIN1 (P610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322005	NM_025248.3(SRCIN1):c.1933G>A (p.Val645Ile)	SRCIN1 (V645I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321889	NM_025248.3(SRCIN1):c.1378C>T (p.Pro460Ser)	SRCIN1 (P460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318532	NM_025248.3(SRCIN1):c.658A>G (p.Met220Val)	SRCIN1 (M220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317131	NM_025248.3(SRCIN1):c.215A>C (p.Gln72Pro)	SRCIN1 (Q72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314384	NM_025248.3(SRCIN1):c.3436G>C (p.Glu1146Gln)	SRCIN1 (E1146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308314	NM_025248.3(SRCIN1):c.1582C>T (p.Arg528Cys)	SRCIN1 (R528C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306388	NM_025248.3(SRCIN1):c.3412C>G (p.Gln1138Glu)	SRCIN1 (Q1138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302216	NM_025248.3(SRCIN1):c.2200A>C (p.Asn734His)	SRCIN1 (N734H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298669	NM_025248.3(SRCIN1):c.2756G>A (p.Arg919Gln)	SRCIN1 (R919Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297865	NM_025248.3(SRCIN1):c.3464G>A (p.Ser1155Asn)	SRCIN1 (S1155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288698	NM_025248.3(SRCIN1):c.2651C>T (p.Thr884Ile)	SRCIN1 (T884I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285909	NM_025248.3(SRCIN1):c.2611C>G (p.Leu871Val)	SRCIN1 (L871V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269519	NM_025248.3(SRCIN1):c.337A>G (p.Ser113Gly)	SRCIN1 (S113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257999	NM_025248.3(SRCIN1):c.3430T>G (p.Ser1144Ala)	SRCIN1 (S1144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257432	NM_025248.3(SRCIN1):c.3334G>A (p.Ala1112Thr)	SRCIN1 (A1112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254466	NM_025248.3(SRCIN1):c.567G>T (p.Glu189Asp)	SRCIN1 (E189D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241890	NM_025248.3(SRCIN1):c.3251G>A (p.Arg1084His)	SRCIN1 (R1084H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239037	NM_025248.3(SRCIN1):c.1256C>T (p.Ala419Val)	SRCIN1 (A419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233808	NM_025248.3(SRCIN1):c.200C>G (p.Ala67Gly)	SRCIN1 (A67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233622	NM_025248.3(SRCIN1):c.2560T>C (p.Phe854Leu)	SRCIN1 (F854L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215737	NM_025248.3(SRCIN1):c.1267G>A (p.Ala423Thr)	SRCIN1 (A423T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815933	GRCh37/hg19 17q12(chr17:36710984-37295662)x3	C17orf98, CISD3 +11 more	Copy number gain	not provided	GUncertain significance
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 682222	NM_025248.3(SRCIN1):c.1968C>A (p.Gly656=)	SRCIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 85