ClinVar for Gene (Select 113746) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2641036	NM_053280.5(CIMAP1A):c.495C>G (p.Gly165=)	CIMAP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494128	NM_053280.5(CIMAP1A):c.348C>G (p.Phe116Leu)	CIMAP1A (F116L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390853	NM_053280.5(CIMAP1A):c.520G>A (p.Asp174Asn)	CIMAP1A (D174N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379235	NM_053280.5(CIMAP1A):c.715G>A (p.Gly239Ser)	CIMAP1A (G239S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369592	NM_053280.5(CIMAP1A):c.49G>C (p.Gly17Arg)	CIMAP1A (G17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285166	NM_053280.5(CIMAP1A):c.91C>G (p.Leu31Val)	CIMAP1A (L31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279064	NM_053280.5(CIMAP1A):c.731A>G (p.Asp244Gly)	CIMAP1A (D197G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268578	NM_053280.5(CIMAP1A):c.403A>G (p.Ser135Gly)	CIMAP1A (S135G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207945	NM_053280.5(CIMAP1A):c.531C>G (p.His177Gln)	CIMAP1A (H177Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	B4GALNT4, BET1L +132 more	Copy number gain	See cases	GPathogenic
Select item 393875	GRCh37/hg19 11p15.5(chr11:193842-475940)x3	ANO9, B4GALNT4 +15 more	Copy number gain	See cases	GLikely benign
Select item 253707	GRCh37/hg19 11p15.5(chr11:193142-299384)x3	RIC8A, PGGHG +7 more	Copy number gain	See cases	GUncertain significance
Select item 161085	GRCh38/hg38 11p15.5(chr11:196966-244236)x1	BET1L, CIMAP1A +8 more	Copy number loss	See cases	GUncertain significance
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005114, LOC130005115 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 151347	GRCh38/hg38 11p15.5(chr11:200222-237805)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GBenign
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144144	GRCh38/hg38 11p15.5(chr11:196966-244236)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GBenign
Select item 57951	GRCh38/hg38 11p15.5(chr11:196966-251588)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GUncertain significance
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC130005104, LOC130005105 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +332 more	Copy number gain	See cases	GPathogenic

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Items: 23