SNF8[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
Select item 155384	GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	ABI3, ATP5MC1 +92 more	Copy number gain	See cases	GUncertain significance
Select item 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	ABI3, ATP5MC1 +87 more	Copy number loss	See cases	GPathogenic
Select item 2363731	NM_007241.4(SNF8):c.755A>C (p.Glu252Ala)	SNF8 (E251A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225431	NM_007241.4(SNF8):c.699C>G (p.His233Gln)	SNF8 (H129Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508310	NM_007241.4(SNF8):c.694G>A (p.Ala232Thr)	SNF8 (A231T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557216	NM_007241.4(SNF8):c.686C>T (p.Pro229Leu)	SNF8 (P228L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2664483	NM_007241.4(SNF8):c.673_683delinsTGGA (p.Asp225fs)	SNF8 (D121fs +3 more)	Indel (frameshift variant +1 more)	SNF8-associated disease	GPathogenic
Select item 691391	NM_007241.4(SNF8):c.629G>A (p.Arg210Gln)	SNF8 (R106Q +3 more)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 2664481	NM_007241.4(SNF8):c.623G>T (p.Arg208Leu)	SNF8 (R104L +3 more)	Single nucleotide variant (missense variant +1 more)	SNF8-associated disease	GPathogenic
Select item 2664479	NM_007241.4(SNF8):c.572G>A (p.Gly191Asp)	SNF8 (G174D +3 more)	Single nucleotide variant (missense variant +1 more)	SNF8-associated disease	GPathogenic
Select item 2664478	NM_007241.4(SNF8):c.501C>A (p.Tyr167Ter)	SNF8 (Y150* +2 more)	Single nucleotide variant (nonsense +1 more)	SNF8-associated disease	GPathogenic
Select item 2664482	NM_007241.4(SNF8):c.423-1G>C	SNF8	Single nucleotide variant (splice acceptor variant)	SNF8-associated disease	GPathogenic
Select item 2353950	NM_007241.4(SNF8):c.406G>A (p.Ala136Thr)	SNF8 (A32T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2664484	NM_007241.4(SNF8):c.304G>A (p.Val102Ile)	SNF8 (V102I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3166985	NM_007241.4(SNF8):c.277G>A (p.Val93Met)	SNF8 (V76M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2664480	NM_007241.4(SNF8):c.236C>T (p.Pro79Leu)	SNF8 (P62L +1 more)	Single nucleotide variant (missense variant +2 more)	SNF8-associated disease	GPathogenic
Select item 3166984	NM_007241.4(SNF8):c.193C>T (p.Arg65Cys)	SNF8 (R65C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269619	NM_007241.4(SNF8):c.50C>T (p.Ala17Val)	LOC130061105, SNF8 (A17V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 1807609	GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3	ABI3, ATP5MC1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688814	GRCh37/hg19 17q21.32-21.33(chr17:46899690-47540874)x3	ABI3, ATP5MC1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 688217	GRCh37/hg19 17q21.32(chr17:46874271-47158974)x3	ATP5MC1, CALCOCO2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 29