ISOC1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 3111045	NM_016048.2(ISOC1):c.23T>A (p.Val8Asp)	ISOC1, LOC129994531 (V8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247284	NM_016048.2(ISOC1):c.26T>C (p.Leu9Pro)	ISOC1, LOC129994531 (L9P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479719	NM_016048.2(ISOC1):c.31C>T (p.Leu11Phe)	ISOC1, LOC129994531 (L11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510473	NM_016048.2(ISOC1):c.62C>T (p.Ala21Val)	ISOC1, LOC129994531 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111050	NM_016048.2(ISOC1):c.71G>C (p.Gly24Ala)	ISOC1, LOC129994531 (G24A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286633	NM_016048.2(ISOC1):c.90C>G (p.Phe30Leu)	ISOC1, LOC129994531 (F30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238799	NM_016048.2(ISOC1):c.101T>C (p.Val34Ala)	ISOC1, LOC129994531 (V34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610258	NM_016048.2(ISOC1):c.178G>T (p.Asp60Tyr)	ISOC1, LOC129994531 (D60Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286634	NM_016048.2(ISOC1):c.265G>C (p.Val89Leu)	ISOC1, LOC129994531 (V89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606283	NM_016048.2(ISOC1):c.268A>G (p.Ser90Gly)	ISOC1, LOC129994531 (S90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330044	NM_016048.2(ISOC1):c.289C>A (p.Leu97Ile)	ISOC1, LOC129994531 (L97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111046	NM_016048.2(ISOC1):c.296C>T (p.Pro99Leu)	ISOC1, LOC129994531 (P99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111047	NM_016048.2(ISOC1):c.314C>T (p.Thr105Ile)	ISOC1 (T105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544959	NM_016048.2(ISOC1):c.415G>A (p.Val139Met)	ISOC1 (V139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331519	NM_016048.2(ISOC1):c.425G>A (p.Arg142Lys)	ISOC1 (R142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111048	NM_016048.2(ISOC1):c.473A>G (p.Glu158Gly)	ISOC1 (E158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247923	NM_016048.2(ISOC1):c.500C>G (p.Thr167Arg)	ISOC1 (T167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305261	NM_016048.2(ISOC1):c.641T>C (p.Val214Ala)	ISOC1 (V214A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111049	NM_016048.2(ISOC1):c.677G>A (p.Arg226Gln)	ISOC1 (R226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111051	NM_016048.2(ISOC1):c.721A>G (p.Ser241Gly)	ISOC1 (S241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403931	NM_016048.2(ISOC1):c.736A>G (p.Met246Val)	ISOC1 (M246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529016	NM_016048.2(ISOC1):c.757G>A (p.Ala253Thr)	ISOC1 (A253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111052	NM_016048.2(ISOC1):c.766G>A (p.Gly256Arg)	ISOC1 (G256R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211158	NM_016048.2(ISOC1):c.778A>T (p.Thr260Ser)	ISOC1 (T260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251062	NM_016048.2(ISOC1):c.800T>C (p.Leu267Pro)	ISOC1 (L267P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370248	NM_016048.2(ISOC1):c.836A>G (p.Lys279Arg)	ISOC1 (K279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111054	NM_016048.2(ISOC1):c.863G>C (p.Ser288Thr)	ISOC1 (S288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323026	NM_016048.2(ISOC1):c.875C>T (p.Ser292Leu)	ISOC1 (S292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2684429	GRCh37/hg19 5q23.3(chr5:127909723-130536409)x3	ADAMTS19, CHSY3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 1706508	GRCh37/hg19 5q23.2-23.3(chr5:124997035-128900524)x1	ADAMTS19, FBN2 +13 more	Copy number loss	See cases	GPathogenic
Select item 814744	GRCh37/hg19 5q23.3(chr5:128325725-128779359)x3	SLC27A6, ISOC1	Copy number gain	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 563106	GRCh37/hg19 5q23.3(chr5:127652241-128856146)x3	FBN2, ISOC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 48