ClinVar for Gene (Select 134549) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318377	NM_001172700.2(SHROOM1):c.2134G>A (p.Val712Met)	SHROOM1 (V712M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318374	NM_001172700.2(SHROOM1):c.163C>T (p.Leu55Phe)	LOC129994610, SHROOM1 (L55F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318373	NM_001172700.2(SHROOM1):c.701G>A (p.Arg234Gln)	SHROOM1 (R234Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318372	NM_001172700.2(SHROOM1):c.29G>A (p.Arg10His)	SHROOM1 (R10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318371	NM_001172700.2(SHROOM1):c.2195G>A (p.Arg732Gln)	SHROOM1 (R663Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318370	NM_001172700.2(SHROOM1):c.1924G>A (p.Ala642Thr)	SHROOM1 (A573T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318369	NM_001172700.2(SHROOM1):c.1980G>C (p.Lys660Asn)	SHROOM1 (K591N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318368	NM_001172700.2(SHROOM1):c.2323G>A (p.Glu775Lys)	SHROOM1 (E706K +2 more)	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 3161937	NM_001172700.2(SHROOM1):c.971T>C (p.Ile324Thr)	SHROOM1 (I324T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161936	NM_001172700.2(SHROOM1):c.970A>C (p.Ile324Leu)	SHROOM1 (I324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161935	NM_001172700.2(SHROOM1):c.913C>T (p.Arg305Trp)	SHROOM1 (R305W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161934	NM_001172700.2(SHROOM1):c.397A>G (p.Ser133Gly)	LOC129994610, SHROOM1 (S133G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161933	NM_001172700.2(SHROOM1):c.377C>T (p.Ala126Val)	LOC129994610, SHROOM1 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161932	NM_001172700.2(SHROOM1):c.373G>A (p.Ala125Thr)	LOC129994610, SHROOM1 (A125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161930	NM_001172700.2(SHROOM1):c.2425C>T (p.Arg809Cys)	SHROOM1 (R804C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161929	NM_001172700.2(SHROOM1):c.2116A>T (p.Met706Leu)	SHROOM1 (M637L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161928	NM_001172700.2(SHROOM1):c.1993C>T (p.Leu665Phe)	SHROOM1 (L596F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161927	NM_001172700.2(SHROOM1):c.1969C>T (p.Arg657Cys)	SHROOM1 (R588C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161926	NM_001172700.2(SHROOM1):c.1772G>T (p.Gly591Val)	SHROOM1 (G522V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161924	NM_001172700.2(SHROOM1):c.1552C>T (p.Pro518Ser)	SHROOM1 (P518S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161922	NM_001172700.2(SHROOM1):c.1058C>T (p.Ala353Val)	SHROOM1 (A353V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161921	NM_001172700.2(SHROOM1):c.1055C>T (p.Ala352Val)	SHROOM1 (A352V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655698	NM_001172700.2(SHROOM1):c.504C>G (p.Pro168=)	LOC129994609, SHROOM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655697	NM_001172700.2(SHROOM1):c.1083C>T (p.Pro361=)	SHROOM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2619607	NM_001172700.2(SHROOM1):c.1456G>A (p.Gly486Arg)	SHROOM1 (G486R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609222	NM_001172700.2(SHROOM1):c.10C>G (p.Leu4Val)	SHROOM1 (L4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553799	NM_001172700.2(SHROOM1):c.1762C>G (p.Pro588Ala)	SHROOM1 (P588A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546184	NM_001172700.2(SHROOM1):c.2455G>T (p.Ala819Ser)	SHROOM1 (A750S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537249	NM_001172700.2(SHROOM1):c.1477A>C (p.Thr493Pro)	SHROOM1 (T493P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534558	NM_001172700.2(SHROOM1):c.380A>G (p.Gln127Arg)	LOC129994610, SHROOM1 (Q127R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527814	NM_001172700.2(SHROOM1):c.1273G>A (p.Gly425Ser)	SHROOM1 (G356S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522455	NM_001172700.2(SHROOM1):c.1375G>A (p.Gly459Ser)	SHROOM1 (G459S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521959	NM_001172700.2(SHROOM1):c.61G>A (p.Asp21Asn)	SHROOM1 (D21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519437	NM_001172700.2(SHROOM1):c.431G>A (p.Arg144Gln)	SHROOM1 (R144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517853	NM_001172700.2(SHROOM1):c.585G>C (p.Glu195Asp)	LOC129994609, SHROOM1 (E195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511356	NM_001172700.2(SHROOM1):c.1567G>A (p.Ala523Thr)	SHROOM1 (A523T +1 more)	Single nucleotide variant (missense variant)	not specified	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 2488324	NM_001172700.2(SHROOM1):c.344T>C (p.Leu115Pro)	LOC129994610, SHROOM1 (L115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485359	NM_001172700.2(SHROOM1):c.2198C>A (p.Ala733Glu)	SHROOM1 (A664E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464672	NM_001172700.2(SHROOM1):c.731G>A (p.Gly244Asp)	SHROOM1 (G244D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454561	NM_001172700.2(SHROOM1):c.2498C>G (p.Pro833Arg)	SHROOM1 (P828R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411541	NM_001172700.2(SHROOM1):c.591G>C (p.Glu197Asp)	LOC129994609, SHROOM1 (E197D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403265	NM_001172700.2(SHROOM1):c.388G>A (p.Glu130Lys)	LOC129994610, SHROOM1 (E130K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397296	NM_001172700.2(SHROOM1):c.1778C>T (p.Ala593Val)	SHROOM1 (A593V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394256	NM_001172700.2(SHROOM1):c.308C>T (p.Thr103Ile)	LOC129994610, SHROOM1 (T103I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393851	NM_001172700.2(SHROOM1):c.586G>A (p.Gly196Arg)	LOC129994609, SHROOM1 (G196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384279	NM_001172700.2(SHROOM1):c.1945G>A (p.Gly649Ser)	SHROOM1 (G580S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364935	NM_001172700.2(SHROOM1):c.1025A>G (p.Lys342Arg)	SHROOM1 (K342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362042	NM_001172700.2(SHROOM1):c.1319C>T (p.Pro440Leu)	SHROOM1 (P440L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355006	NM_001172700.2(SHROOM1):c.2189T>A (p.Leu730Gln)	SHROOM1 (L661Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340043	NM_001172700.2(SHROOM1):c.2479C>T (p.His827Tyr)	SHROOM1 (H827Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328910	NM_001172700.2(SHROOM1):c.275G>C (p.Arg92Pro)	LOC129994610, SHROOM1 (R92P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328909	NM_001172700.2(SHROOM1):c.1151C>A (p.Ser384Tyr)	SHROOM1 (S384Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304828	NM_001172700.2(SHROOM1):c.16C>T (p.Pro6Ser)	SHROOM1 (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303128	NM_001172700.2(SHROOM1):c.2066C>T (p.Ala689Val)	SHROOM1 (A620V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299272	NM_001172700.2(SHROOM1):c.269C>T (p.Ala90Val)	LOC129994610, SHROOM1 (A90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274060	NM_001172700.2(SHROOM1):c.292A>G (p.Thr98Ala)	LOC129994610, SHROOM1 (T98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231545	NM_001172700.2(SHROOM1):c.1363C>A (p.Gln455Lys)	SHROOM1 (Q455K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226111	NM_001172700.2(SHROOM1):c.271G>A (p.Ala91Thr)	LOC129994610, SHROOM1 (A91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223300	NM_001172700.2(SHROOM1):c.1762C>A (p.Pro588Thr)	SHROOM1 (P519T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212543	NM_001172700.2(SHROOM1):c.785A>T (p.His262Leu)	SHROOM1 (H262L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 787536	NM_001172700.2(SHROOM1):c.963C>T (p.Thr321=)	SHROOM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771153	NM_001172700.2(SHROOM1):c.1777G>A (p.Ala593Thr)	SHROOM1 (A593T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +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
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 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 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 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 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 80