STMND1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +824 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 148200	GRCh38/hg38 6p23-22.3(chr6:14730556-17554091)x1	LOC129995876, LOC129995877 +135 more	Copy number loss	See cases	GLikely pathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 2509420	NM_001190766.2(STMND1):c.125G>A (p.Arg42Gln)	STMND1 (R42Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228390	NM_001190766.2(STMND1):c.182T>G (p.Val61Gly)	STMND1 (V61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171457	NM_001190766.2(STMND1):c.308G>A (p.Arg103Gln)	STMND1 (R103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361026	NM_001190766.2(STMND1):c.314G>A (p.Arg105Gln)	STMND1 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236920	NM_001190766.2(STMND1):c.363A>G (p.Ile121Met)	STMND1 (I121M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477545	NM_001190766.2(STMND1):c.380T>C (p.Val127Ala)	STMND1 (V127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459676	NM_001190766.2(STMND1):c.419C>T (p.Thr140Met)	STMND1 (T140M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171458	NM_001190766.2(STMND1):c.471C>G (p.Ile157Met)	STMND1 (I157M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171459	NM_001190766.2(STMND1):c.494C>T (p.Thr165Ile)	STMND1 (T165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509754	NM_001190766.2(STMND1):c.508G>A (p.Glu170Lys)	STMND1 (E170K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377258	NM_001190766.2(STMND1):c.529G>A (p.Glu177Lys)	STMND1 (E177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171460	NM_001190766.2(STMND1):c.555A>T (p.Glu185Asp)	STMND1 (E185D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255830	NM_001190766.2(STMND1):c.575G>A (p.Arg192Gln)	STMND1 (R192Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552873	NM_001190766.2(STMND1):c.590T>C (p.Leu197Ser)	STMND1 (L197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404778	NM_001190766.2(STMND1):c.643T>C (p.Phe215Leu)	STMND1 (F215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335507	NM_001190766.2(STMND1):c.700G>A (p.Gly234Arg)	STMND1 (G234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526574	NM_001190766.2(STMND1):c.704G>A (p.Gly235Glu)	STMND1 (G235E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355623	NM_001190766.2(STMND1):c.760G>C (p.Glu254Gln)	STMND1 (E254Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470055	NM_001190766.2(STMND1):c.775T>G (p.Phe259Val)	STMND1 (F259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 979710	GRCh37/hg19 6p22.3(chr6:16928560-17132863)x3	STMND1	Copy number gain	not provided	GUncertain significance
Select item 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 688349	GRCh37/hg19 6p23-22.3(chr6:14715955-17223929)x3	ATXN1, DTNBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 40