11267[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +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	LOC130061104, LOC130061105 +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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	SNF8-associated disease	GPathogenic
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 2269619	NM_007241.4(SNF8):c.50C>T (p.Ala17Val)	SNF8, LOC130061105 (A17V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27