ClinVar for Gene (Select 388336) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318293	NM_207386.4(SHISA6):c.62C>T (p.Pro21Leu)	SHISA6 (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318292	NM_207386.4(SHISA6):c.397C>T (p.Arg133Cys)	SHISA6 (R133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318291	NM_207386.4(SHISA6):c.1193A>G (p.Gln398Arg)	SHISA6 (Q347R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318290	NM_207386.4(SHISA6):c.903T>A (p.His301Gln)	SHISA6 (H301Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318289	NM_207386.4(SHISA6):c.256A>C (p.Ser86Arg)	SHISA6 (S86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318288	NM_207386.4(SHISA6):c.482C>T (p.Pro161Leu)	SHISA6 (P161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161727	NM_207386.4(SHISA6):c.840T>A (p.Asp280Glu)	SHISA6 (D280E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161726	NM_207386.4(SHISA6):c.770C>T (p.Thr257Ile)	SHISA6 (T257I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161725	NM_207386.4(SHISA6):c.221G>C (p.Arg74Pro)	SHISA6 (R74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161724	NM_207386.4(SHISA6):c.209C>T (p.Ala70Val)	SHISA6 (A70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161723	NM_207386.4(SHISA6):c.208G>T (p.Ala70Ser)	SHISA6 (A70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161722	NM_207386.4(SHISA6):c.146G>A (p.Gly49Asp)	SHISA6 (G49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161721	NM_207386.4(SHISA6):c.1330G>A (p.Glu444Lys)	SHISA6 (E393K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161720	NM_207386.4(SHISA6):c.1243C>T (p.Arg415Trp)	SHISA6 (R415W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161719	NM_207386.4(SHISA6):c.1232G>A (p.Arg411His)	SHISA6 (R411H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161718	NM_207386.4(SHISA6):c.1166G>A (p.Arg389His)	SHISA6 (R338H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161717	NM_207386.4(SHISA6):c.107G>A (p.Ser36Asn)	SHISA6 (S36N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161716	NM_207386.4(SHISA6):c.1016G>A (p.Arg339His)	SHISA6 (R320H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2619888	NM_207386.4(SHISA6):c.1438G>A (p.Val480Ile)	SHISA6 (V429I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598112	NM_207386.4(SHISA6):c.143G>T (p.Gly48Val)	SHISA6 (G48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597262	NM_207386.4(SHISA6):c.221G>A (p.Arg74Gln)	SHISA6 (R74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593350	NM_207386.4(SHISA6):c.479C>G (p.Ser160Trp)	SHISA6 (S160W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2541449	NM_207386.4(SHISA6):c.1617C>A (p.His539Gln)	SHISA6 (H488Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539869	NM_207386.4(SHISA6):c.1265T>C (p.Val422Ala)	SHISA6 (V403A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534550	NM_207386.4(SHISA6):c.257G>A (p.Ser86Asn)	SHISA6 (S86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534549	NM_207386.4(SHISA6):c.245C>T (p.Ala82Val)	SHISA6 (A82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534507	NM_207386.4(SHISA6):c.1226G>A (p.Arg409Gln)	SHISA6 (R358Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531776	NM_207386.4(SHISA6):c.818C>T (p.Ala273Val)	SHISA6 (A273V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521389	NM_207386.4(SHISA6):c.438G>T (p.Gln146His)	SHISA6 (Q146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520585	NM_207386.4(SHISA6):c.779G>A (p.Arg260His)	SHISA6 (R260H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508285	NM_207386.4(SHISA6):c.1352G>A (p.Arg451His)	SHISA6 (R400H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488545	NM_207386.4(SHISA6):c.1472G>T (p.Arg491Leu)	SHISA6 (R491L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476638	NM_207386.4(SHISA6):c.778C>T (p.Arg260Cys)	SHISA6 (R260C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470773	NM_207386.4(SHISA6):c.1249A>G (p.Met417Val)	SHISA6 (M398V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467574	NM_207386.4(SHISA6):c.1142G>A (p.Arg381Gln)	SHISA6 (R362Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467388	NM_207386.4(SHISA6):c.1493A>G (p.His498Arg)	SHISA6 (H447R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399868	NM_207386.4(SHISA6):c.1466G>A (p.Arg489His)	SHISA6 (R470H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398740	NM_207386.4(SHISA6):c.1558G>A (p.Ala520Thr)	SHISA6 (A469T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388941	NM_207386.4(SHISA6):c.161G>A (p.Gly54Asp)	SHISA6 (G54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374421	NM_207386.4(SHISA6):c.125T>G (p.Val42Gly)	SHISA6 (V42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364074	NM_207386.4(SHISA6):c.47C>T (p.Ser16Phe)	SHISA6 (S16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349934	NM_207386.4(SHISA6):c.1456G>A (p.Val486Met)	SHISA6 (V435M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349761	NM_207386.4(SHISA6):c.1519G>A (p.Ala507Thr)	SHISA6 (A456T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338667	NM_207386.4(SHISA6):c.1427C>T (p.Ser476Leu)	SHISA6 (S457L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303582	NM_207386.4(SHISA6):c.1487A>G (p.His496Arg)	SHISA6 (H445R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282959	NM_207386.4(SHISA6):c.403G>A (p.Glu135Lys)	SHISA6 (E135K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276858	NM_207386.4(SHISA6):c.1327G>A (p.Asp443Asn)	SHISA6 (D392N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267443	NM_207386.4(SHISA6):c.190G>T (p.Ala64Ser)	SHISA6 (A64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263961	NM_207386.4(SHISA6):c.1286T>C (p.Leu429Pro)	SHISA6 (L429P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237449	NM_207386.4(SHISA6):c.677C>G (p.Pro226Arg)	SHISA6 (P226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236086	NM_207386.4(SHISA6):c.94A>C (p.Asn32His)	SHISA6 (N32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227472	NM_207386.4(SHISA6):c.106A>C (p.Ser36Arg)	SHISA6 (S36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223506	NM_207386.4(SHISA6):c.108T>G (p.Ser36Arg)	SHISA6 (S36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218332	NM_207386.4(SHISA6):c.1418G>A (p.Arg473Lys)	SHISA6 (R422K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929830	GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1	ADPRM, ARHGAP44 +14 more	Copy number loss	See cases	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
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 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 147149	GRCh38/hg38 17p13.1-12(chr17:10713492-11312542)x3	LOC121852923, LOC125177419 +7 more	Copy number gain	See cases	GUncertain significance
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 68