ClinVar for Gene (Select 134353) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121306	NM_173491.4(LSM11):c.817G>A (p.Gly273Ser)	LSM11 (G273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121305	NM_173491.4(LSM11):c.496G>C (p.Gly166Arg)	LSM11 (G166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121304	NM_173491.4(LSM11):c.311C>G (p.Ala104Gly)	LSM11 (A104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121303	NM_173491.4(LSM11):c.289C>G (p.Arg97Gly)	LOC129995145, LSM11 (R97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121302	NM_173491.4(LSM11):c.23C>T (p.Ala8Val)	LOC129995145, LSM11 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121301	NM_173491.4(LSM11):c.145A>G (p.Asn49Asp)	LOC129995145, LSM11 (N49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037709	NM_173491.4(LSM11):c.208G>A (p.Gly70Ser)	LOC129995145, LSM11 (G70S)	Single nucleotide variant (missense variant)	LSM11-related disorder	GLikely benign
Select item 3034792	NM_173491.4(LSM11):c.843C>G (p.Val281=)	LSM11	Single nucleotide variant (synonymous variant)	LSM11-related disorder	GLikely benign
Select item 2688257	NM_173491.4(LSM11):c.228G>A (p.Arg76=)	LOC129995145, LSM11	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2656006	NM_173491.4(LSM11):c.1062G>A (p.Leu354=)	LSM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656005	NM_173491.4(LSM11):c.675A>G (p.Leu225=)	LSM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656004	NM_173491.4(LSM11):c.108C>T (p.Ala36=)	LOC129995145, LSM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656003	NM_173491.4(LSM11):c.18G>C (p.Arg6=)	LOC129995145, LSM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614562	NM_173491.4(LSM11):c.881G>C (p.Arg294Thr)	LSM11 (R294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605696	NM_173491.4(LSM11):c.974G>A (p.Arg325His)	LSM11 (R325H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599466	NM_173491.4(LSM11):c.544G>A (p.Val182Ile)	LSM11 (V182I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589334	NM_173491.4(LSM11):c.29C>G (p.Ser10Trp)	LOC129995145, LSM11 (S10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549983	NM_173491.4(LSM11):c.170C>A (p.Ala57Glu)	LOC129995145, LSM11 (A57E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526668	NM_173491.4(LSM11):c.742T>C (p.Ser248Pro)	LSM11 (S248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481128	NM_173491.4(LSM11):c.325C>T (p.Arg109Cys)	LSM11 (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477983	NM_173491.4(LSM11):c.721T>C (p.Ser241Pro)	LSM11 (S241P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381819	NM_173491.4(LSM11):c.17G>C (p.Arg6Pro)	LOC129995145, LSM11 (R6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364301	NM_173491.4(LSM11):c.1025A>T (p.His342Leu)	LSM11 (H342L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356325	NM_173491.4(LSM11):c.242C>G (p.Ala81Gly)	LOC129995145, LSM11 (A81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331266	NM_173491.4(LSM11):c.206G>A (p.Gly69Asp)	LOC129995145, LSM11 (G69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327643	NM_173491.4(LSM11):c.50C>G (p.Ala17Gly)	LOC129995145, LSM11 (A17G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318062	NM_173491.4(LSM11):c.647G>A (p.Arg216Gln)	LSM11 (R216Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309477	NM_173491.4(LSM11):c.254G>T (p.Gly85Val)	LOC129995145, LSM11 (G85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283574	NM_173491.4(LSM11):c.17G>A (p.Arg6Gln)	LOC129995145, LSM11 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278317	NM_173491.4(LSM11):c.10C>T (p.Arg4Trp)	LOC129995145, LSM11 (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266973	NM_173491.4(LSM11):c.268C>A (p.Pro90Thr)	LOC129995145, LSM11 (P90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253930	NM_173491.4(LSM11):c.535C>T (p.Leu179Phe)	LSM11 (L179F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231536	NM_173491.4(LSM11):c.317A>C (p.Asp106Ala)	LSM11 (D106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229250	NM_173491.4(LSM11):c.323A>C (p.Glu108Ala)	LSM11 (E108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223529	NM_173491.4(LSM11):c.305C>G (p.Ala102Gly)	LOC129995145, LSM11 (A102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1675997	NM_173491.4(LSM11):c.1014A>C (p.Val338=)	LSM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 1202617	NM_173491.4(LSM11):c.631G>A (p.Gly211Ser)	LSM11 (G211S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 8	GPathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563114	GRCh37/hg19 5q33.3(chr5:156911673-157225044)x3	LSM11, C5orf52 +4 more	Copy number gain	not provided	GUncertain significance
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 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +294 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +279 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54