SHCBP1L[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 2360766	NM_030933.4(SHCBP1L):c.1898T>C (p.Leu633Pro)	SHCBP1L (L514P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557489	NM_030933.4(SHCBP1L):c.1828A>G (p.Asn610Asp)	SHCBP1L (N491D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358091	NM_030933.4(SHCBP1L):c.1810G>A (p.Val604Ile)	SHCBP1L (V604I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378062	NM_030933.4(SHCBP1L):c.1768T>C (p.Tyr590His)	SHCBP1L (Y471H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513093	NM_030933.4(SHCBP1L):c.1757G>A (p.Ser586Asn)	SHCBP1L (S586N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161645	NM_030933.4(SHCBP1L):c.1685G>A (p.Ser562Asn)	SHCBP1L (S562N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559840	NM_030933.4(SHCBP1L):c.1655A>G (p.Asn552Ser)	SHCBP1L (N552S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161644	NM_030933.4(SHCBP1L):c.1582G>A (p.Ala528Thr)	SHCBP1L (A528T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554772	NM_030933.4(SHCBP1L):c.1562C>T (p.Thr521Ile)	SHCBP1L (T521I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546840	NM_030933.4(SHCBP1L):c.1504A>G (p.Ile502Val)	SHCBP1L (I383V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324961	NM_030933.4(SHCBP1L):c.1465G>A (p.Val489Met)	SHCBP1L (V370M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380756	NM_030933.4(SHCBP1L):c.1427A>G (p.His476Arg)	SHCBP1L (H476R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568543	NM_030933.4(SHCBP1L):c.1412A>G (p.Asn471Ser)	SHCBP1L (N352S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639621	NM_030933.4(SHCBP1L):c.1340T>C (p.Val447Ala)	SHCBP1L (V328A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2300252	NM_030933.4(SHCBP1L):c.1300A>C (p.Asn434His)	SHCBP1L (N434H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356638	NM_030933.4(SHCBP1L):c.1283G>A (p.Gly428Glu)	SHCBP1L (G309E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161643	NM_030933.4(SHCBP1L):c.1249T>A (p.Cys417Ser)	SHCBP1L (C298S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544426	NM_030933.4(SHCBP1L):c.1079T>C (p.Val360Ala)	SHCBP1L (V241A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602881	NM_030933.4(SHCBP1L):c.1055T>C (p.Met352Thr)	SHCBP1L (M233T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161642	NM_030933.4(SHCBP1L):c.1018T>C (p.Tyr340His)	SHCBP1L (Y221H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318270	NM_030933.4(SHCBP1L):c.967A>G (p.Asn323Asp)	SHCBP1L (N204D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161651	NM_030933.4(SHCBP1L):c.953T>C (p.Ile318Thr)	SHCBP1L (I199T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383107	NM_030933.4(SHCBP1L):c.941G>A (p.Arg314His)	SHCBP1L (R314H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554552	NM_030933.4(SHCBP1L):c.934A>G (p.Asn312Asp)	SHCBP1L (N312D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606378	NM_030933.4(SHCBP1L):c.919T>G (p.Leu307Val)	SHCBP1L (L307V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161777	NM_030933.4(SHCBP1L):c.881C>A (p.Thr294Lys)	SHCBP1L (T294K +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2211551	NM_030933.4(SHCBP1L):c.875A>C (p.Asp292Ala)	SHCBP1L (D292A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262811	NM_030933.4(SHCBP1L):c.871C>A (p.Gln291Lys)	SHCBP1L (Q291K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536558	NM_030933.4(SHCBP1L):c.832G>A (p.Ala278Thr)	SHCBP1L (A278T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161650	NM_030933.4(SHCBP1L):c.826T>C (p.Tyr276His)	SHCBP1L (Y157H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454854	NM_030933.4(SHCBP1L):c.796G>C (p.Asp266His)	SHCBP1L (D147H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161649	NM_030933.4(SHCBP1L):c.748G>C (p.Ala250Pro)	SHCBP1L (A131P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318268	NM_030933.4(SHCBP1L):c.727G>T (p.Asp243Tyr)	SHCBP1L (D243Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212498	NM_030933.4(SHCBP1L):c.590G>A (p.Arg197His)	SHCBP1L (R197H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161648	NM_030933.4(SHCBP1L):c.587C>T (p.Ser196Phe)	SHCBP1L (S196F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318269	NM_030933.4(SHCBP1L):c.586T>C (p.Ser196Pro)	SHCBP1L (S196P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286763	NM_030933.4(SHCBP1L):c.535T>C (p.Phe179Leu)	SHCBP1L (F179L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263751	NM_030933.4(SHCBP1L):c.456G>T (p.Lys152Asn)	SHCBP1L (K33N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592171	NM_030933.4(SHCBP1L):c.349A>T (p.Met117Leu)	SHCBP1L (M117L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2219988	NM_030933.4(SHCBP1L):c.344G>A (p.Arg115Lys)	SHCBP1L (R115K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3161647	NM_030933.4(SHCBP1L):c.337C>A (p.Arg113Ser)	SHCBP1L (R113S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2639622	NM_030933.4(SHCBP1L):c.251CGG[5] (p.Ala89del)	SHCBP1L (A89del)	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2404039	NM_030933.4(SHCBP1L):c.257C>T (p.Ala86Val)	SHCBP1L (A86V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2280008	NM_030933.4(SHCBP1L):c.242C>A (p.Thr81Lys)	SHCBP1L (T81K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3161646	NM_030933.4(SHCBP1L):c.230A>G (p.Gln77Arg)	SHCBP1L (Q77R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2589085	NM_030933.4(SHCBP1L):c.193A>G (p.Thr65Ala)	SHCBP1L (T65A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2619947	NM_030933.4(SHCBP1L):c.188G>A (p.Arg63Gln)	SHCBP1L (R63Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2343661	NM_030933.4(SHCBP1L):c.169G>C (p.Val57Leu)	SHCBP1L (V57L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2208052	NM_030933.4(SHCBP1L):c.152T>A (p.Val51Glu)	SHCBP1L (V51E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2288290	NM_030933.4(SHCBP1L):c.146C>T (p.Ser49Leu)	SHCBP1L (S49L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2286505	NM_030933.4(SHCBP1L):c.139G>A (p.Val47Met)	SHCBP1L (V47M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2490263	NM_030933.4(SHCBP1L):c.131C>A (p.Ala44Glu)	SHCBP1L (A44E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2482888	NM_030933.4(SHCBP1L):c.128C>T (p.Thr43Ile)	SHCBP1L (T43I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2618337	NM_030933.4(SHCBP1L):c.125G>T (p.Gly42Val)	SHCBP1L (G42V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2484145	NM_030933.4(SHCBP1L):c.44G>A (p.Arg15His)	SHCBP1L (R15H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2622073	NM_030933.4(SHCBP1L):c.38C>T (p.Ser13Leu)	SHCBP1L (S13L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	ACBD6, AXDND1 +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814146	GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3	RGS8, RGSL1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 624465	GRCh37/hg19 1q25.3(chr1:181863430-183148056)x1	DHX9, GLUL +9 more	Copy number loss	not provided	GUncertain significance
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 86