SHCBP1[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 150759	GRCh38/hg38 16q11.2(chr16:46466703-46619102)x3	LOC130058916, SHCBP1	Copy number gain	See cases	GLikely benign
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	LINC02128, LINC02133 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 150687	GRCh38/hg38 16q11.2(chr16:46471685-46767956)x3	LOC130058916, LOC130058917 +7 more	Copy number gain	See cases	GLikely benign
Select item 150654	GRCh38/hg38 16q11.2(chr16:46500564-46579319)x1	SHCBP1	Copy number loss	See cases	GLikely benign
Select item 2221365	NM_024745.5(SHCBP1):c.1955T>C (p.Val652Ala)	SHCBP1 (V574A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225760	NM_024745.5(SHCBP1):c.1856T>C (p.Ile619Thr)	SHCBP1 (I619T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281691	NM_024745.5(SHCBP1):c.1799C>T (p.Ala600Val)	SHCBP1 (A522V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482887	NM_024745.5(SHCBP1):c.1762C>A (p.Leu588Met)	SHCBP1 (L550M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287409	NM_024745.5(SHCBP1):c.1756G>A (p.Glu586Lys)	SHCBP1 (E586K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593303	NM_024745.5(SHCBP1):c.1703C>T (p.Ala568Val)	SHCBP1 (A490V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520009	NM_024745.5(SHCBP1):c.1646C>T (p.Pro549Leu)	SHCBP1 (P471L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273684	NM_024745.5(SHCBP1):c.1643A>G (p.Lys548Arg)	SHCBP1 (K470R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569234	NM_024745.5(SHCBP1):c.1603A>G (p.Ile535Val)	SHCBP1 (I457V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161634	NM_024745.5(SHCBP1):c.1541T>C (p.Ile514Thr)	SHCBP1 (I436T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368466	NM_024745.5(SHCBP1):c.1517G>A (p.Gly506Glu)	SHCBP1 (G428E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161632	NM_024745.5(SHCBP1):c.1466G>A (p.Gly489Asp)	SHCBP1 (G411D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538186	NM_024745.5(SHCBP1):c.1454A>G (p.Tyr485Cys)	SHCBP1 (Y407C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461517	NM_024745.5(SHCBP1):c.1439A>T (p.Lys480Met)	SHCBP1 (K442M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334835	NM_024745.5(SHCBP1):c.1433T>A (p.Leu478Gln)	SHCBP1 (L400Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248951	NM_024745.5(SHCBP1):c.1430T>C (p.Phe477Ser)	SHCBP1 (F399S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546447	NM_024745.5(SHCBP1):c.1346T>C (p.Ile449Thr)	SHCBP1 (I449T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466627	NM_024745.5(SHCBP1):c.1261G>A (p.Asp421Asn)	SHCBP1 (D343N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391286	NM_024745.5(SHCBP1):c.1251G>T (p.Arg417Ser)	SHCBP1 (R379S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161631	NM_024745.5(SHCBP1):c.1175A>G (p.His392Arg)	SHCBP1 (H354R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161630	NM_024745.5(SHCBP1):c.1145T>C (p.Val382Ala)	SHCBP1 (V344A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540661	NM_024745.5(SHCBP1):c.1067C>T (p.Pro356Leu)	SHCBP1 (P278L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239809	NM_024745.5(SHCBP1):c.1034G>A (p.Arg345Gln)	SHCBP1 (R267Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161628	NM_024745.5(SHCBP1):c.1010C>T (p.Ser337Phe)	SHCBP1 (S299F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161641	NM_024745.5(SHCBP1):c.980G>T (p.Ser327Ile)	SHCBP1 (S289I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376659	NM_024745.5(SHCBP1):c.886A>C (p.Lys296Gln)	SHCBP1 (K296Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590346	NM_024745.5(SHCBP1):c.869C>T (p.Ser290Leu)	SHCBP1 (S290L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533238	NM_024745.5(SHCBP1):c.812G>C (p.Cys271Ser)	SHCBP1 (C233S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462863	NM_024745.5(SHCBP1):c.746A>G (p.Asn249Ser)	SHCBP1 (N211S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161640	NM_024745.5(SHCBP1):c.736G>C (p.Asp246His)	SHCBP1 (D246H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161639	NM_024745.5(SHCBP1):c.731T>C (p.Ile244Thr)	SHCBP1 (I244T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3161638	NM_024745.5(SHCBP1):c.713G>A (p.Arg238Gln)	SHCBP1 (R238Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465718	NM_024745.5(SHCBP1):c.708A>C (p.Glu236Asp)	SHCBP1 (E236D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2544425	NM_024745.5(SHCBP1):c.661G>A (p.Val221Ile)	SHCBP1 (V183I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484227	NM_024745.5(SHCBP1):c.650A>G (p.Tyr217Cys)	SHCBP1 (Y179C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269380	NM_024745.5(SHCBP1):c.649T>G (p.Tyr217Asp)	SHCBP1 (Y179D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215837	NM_024745.5(SHCBP1):c.515G>A (p.Arg172Gln)	SHCBP1 (R172Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544423	NM_024745.5(SHCBP1):c.382G>A (p.Val128Ile)	SHCBP1 (V128I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161636	NM_024745.5(SHCBP1):c.376G>A (p.Val126Met)	SHCBP1 (V88M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521252	NM_024745.5(SHCBP1):c.346C>T (p.Arg116Trp)	SHCBP1 (R116W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511181	NM_024745.5(SHCBP1):c.291G>C (p.Glu97Asp)	SHCBP1 (E59D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161635	NM_024745.5(SHCBP1):c.265A>G (p.Ile89Val)	SHCBP1 (I89V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322369	NM_024745.5(SHCBP1):c.234C>A (p.Phe78Leu)	SHCBP1 (F78L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 720838	NM_024745.5(SHCBP1):c.161C>G (p.Ser54Cys)	SHCBP1 (S54C)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3161633	NM_024745.5(SHCBP1):c.14C>G (p.Ser5Trp)	SHCBP1 (S5W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684805	GRCh37/hg19 16q11.2(chr16:46503407-46972876)x3	C16orf87, GPT2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1809477	GRCh37/hg19 16q11.2(chr16:46503407-46860107)x3	C16orf87, MYLK3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1340872	GRCh37/hg19 16q11.2-12.1(chr16:46503328-47004071)x3	C16orf87, DNAJA2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980677	GRCh37/hg19 16q11.2-12.1(chr16:46503968-47312075)x3	ITFG1, SHCBP1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980676	GRCh37/hg19 16q11.2-12.1(chr16:46503572-47114342)x3	VPS35, GPT2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815819	GRCh37/hg19 16q11.2-12.1(chr16:46467497-47004071)x3	C16orf87, ORC6 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686087	GRCh37/hg19 16q11.2(chr16:46503192-46708548)x3	SHCBP1, VPS35	Copy number gain	not provided	GUncertain significance
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 394889	GRCh37/hg19 16q11.2(chr16:46509686-46843488)x3	C16orf87, MYLK3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 394415	GRCh37/hg19 16q11.2(chr16:46509686-46637537)x3	SHCBP1	Copy number gain	See cases	GLikely benign
Select item 394370	GRCh37/hg19 16q11.2(chr16:46509686-46615354)x3	SHCBP1	Copy number gain	See cases	GLikely benign
Select item 221520	GRCh37/hg19 16q11.2-12.1(chr16:46615804-47345238)x1	C16orf87, DNAJA2 +7 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 75