SHC4[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 2492142	NM_203349.4(SHC4):c.1560G>T (p.Gln520His)	SHC4 (Q520H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205699	NM_203349.4(SHC4):c.1503G>C (p.Gln501His)	SHC4 (Q501H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318256	NM_203349.4(SHC4):c.1480G>A (p.Gly494Arg)	SHC4 (G494R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161624	NM_203349.4(SHC4):c.1394A>G (p.Tyr465Cys)	SHC4 (Y465C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236435	NM_203349.4(SHC4):c.1297G>A (p.Ala433Thr)	SHC4 (A433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612819	NM_203349.4(SHC4):c.1271A>G (p.Tyr424Cys)	SHC4 (Y424C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238392	NM_203349.4(SHC4):c.1265G>A (p.Ser422Asn)	SHC4 (S422N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161623	NM_203349.4(SHC4):c.1193C>T (p.Thr398Met)	SHC4 (T398M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536557	NM_203349.4(SHC4):c.1101G>C (p.Glu367Asp)	SHC4 (E367D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318259	NM_203349.4(SHC4):c.1028A>C (p.Lys343Thr)	SHC4 (K343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318257	NM_203349.4(SHC4):c.1001T>C (p.Ile334Thr)	SHC4 (I334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509872	NM_203349.4(SHC4):c.1000A>G (p.Ile334Val)	SHC4 (I334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543553	NM_203349.4(SHC4):c.957A>G (p.Ile319Met)	SHC4 (I319M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610108	NM_203349.4(SHC4):c.919G>A (p.Val307Ile)	SHC4 (V307I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318258	NM_203349.4(SHC4):c.855T>G (p.His285Gln)	SHC4 (H285Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597962	NM_014335.3(EID1):c.11T>C (p.Met4Thr)	EID1, LOC130057026 +1 more (M4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087827	NM_014335.3(EID1):c.37G>C (p.Glu13Gln)	EID1, LOC130057026 +1 more (E13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087828	NM_014335.3(EID1):c.49C>G (p.Leu17Val)	EID1, LOC130057026 +1 more (L17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341776	NM_014335.3(EID1):c.65T>C (p.Met22Thr)	EID1, LOC130057026 +1 more (M22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315054	NM_014335.3(EID1):c.149A>C (p.Gln50Pro)	EID1, LOC130057026 +1 more (Q50P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2319205	NM_014335.3(EID1):c.152A>G (p.Gln51Arg)	EID1, LOC130057026 +1 more (Q51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410834	NM_014335.3(EID1):c.170C>G (p.Pro57Arg)	EID1, LOC130057026 +1 more (P57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382800	NM_014335.3(EID1):c.184G>A (p.Glu62Lys)	EID1, LOC130057026 +1 more (E62K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492922	NM_014335.3(EID1):c.194C>T (p.Pro65Leu)	EID1, LOC130057026 +1 more (P65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274922	NM_014335.3(EID1):c.198G>A (p.Met66Ile)	EID1, LOC130057026 +1 more (M66I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087826	NM_014335.3(EID1):c.217C>T (p.Arg73Trp)	EID1, SHC4 (R73W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258549	NM_014335.3(EID1):c.240C>A (p.Asn80Lys)	EID1, SHC4 (N80K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087829	NM_014335.3(EID1):c.515A>G (p.Asn172Ser)	EID1, SHC4 (N172S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161627	NM_203349.4(SHC4):c.829G>A (p.Asp277Asn)	SHC4 (D277N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234619	NM_203349.4(SHC4):c.823A>T (p.Asn275Tyr)	SHC4 (N275Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538788	NM_203349.4(SHC4):c.716G>A (p.Arg239Gln)	SHC4 (R239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161626	NM_203349.4(SHC4):c.703G>A (p.Ala235Thr)	SHC4 (A235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512393	NM_203349.4(SHC4):c.700G>A (p.Gly234Arg)	SHC4 (G234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464662	NM_203349.4(SHC4):c.578G>A (p.Cys193Tyr)	SHC4 (C193Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243956	NM_203349.4(SHC4):c.544C>A (p.Leu182Ile)	SHC4 (L182I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238776	NM_203349.4(SHC4):c.541T>C (p.Phe181Leu)	SHC4 (F181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318255	NM_203349.4(SHC4):c.491C>T (p.Pro164Leu)	SHC4 (P164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522495	NM_203349.4(SHC4):c.452T>G (p.Val151Gly)	SHC4 (V151G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362907	NM_203349.4(SHC4):c.242C>A (p.Thr81Asn)	SHC4 (T81N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383788	NM_203349.4(SHC4):c.241A>G (p.Thr81Ala)	SHC4 (T81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609771	NM_203349.4(SHC4):c.238C>T (p.Pro80Ser)	SHC4 (P80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372020	NM_203349.4(SHC4):c.198C>G (p.His66Gln)	SHC4 (H66Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321122	NM_203349.4(SHC4):c.161G>A (p.Gly54Asp)	SHC4 (G54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262810	NM_203349.4(SHC4):c.143G>C (p.Gly48Ala)	SHC4 (G48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203953	NM_203349.4(SHC4):c.124G>C (p.Asp42His)	SHC4 (D42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539441	NM_203349.4(SHC4):c.106G>A (p.Glu36Lys)	SHC4 (E36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236916	NM_203349.4(SHC4):c.95G>T (p.Arg32Leu)	SHC4 (R32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161625	NM_203349.4(SHC4):c.44A>G (p.Tyr15Cys)	SHC4 (Y15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063396	GRCh37/hg19 15q21.1-21.2(chr15:49143050-50410530)x1	ATP8B4, COPS2 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063385	GRCh37/hg19 15q21.1(chr15:49033630-49143232)x1	CEP152, SHC4	Copy number loss	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063347	GRCh37/hg19 15q21.1(chr15:49059564-49127189)x1	CEP152, SHC4	Copy number loss	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1526455	GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)	AP4E1, ATP8B4 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526451	GRCh37/hg19 15q21.1-21.2(chr15:47574384-50369056)	EID1, FAM227B +15 more	Copy number loss	not specified	GPathogenic
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 815712	GRCh37/hg19 15q21.1-21.2(chr15:49142668-49514861)x3	COPS2, SHC4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815711	GRCh37/hg19 15q21.1(chr15:49011048-49137179)x1	CEP152, SHC4	Copy number loss	not provided	GUncertain significance
Select item 815710	GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1	ATP8B4, CEP152 +20 more	Copy number loss	not provided	GPathogenic
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 687840	GRCh37/hg19 15q21.1(chr15:49043112-49286126)x3	CEP152, EID1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 74