Related gene-specific medical variations for Gene (Select 84623) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2377431	NM_032531.4(KIRREL3):c.119G>A (p.Arg40Gln)	KIRREL3, KIRREL3-AS1 (R40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289682	NM_032531.4(KIRREL3):c.101T>C (p.Met34Thr)	KIRREL3, KIRREL3-AS1 (M34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696756	NM_032531.4(KIRREL3):c.1565A>T (p.Lys522Met)	KIRREL3 (K522M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1341131	GRCh37/hg19 11q24.2(chr11:126462437-126678981)x3	KIRREL3	Copy number gain	not provided	GUncertain significance
Select item 931009	NM_032531.4(KIRREL3):c.232G>A (p.Val78Ile)	KIRREL3 (V78I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 442523	GRCh37/hg19 11q24.2(chr11:126397351-126466438)x1	KIRREL3	Copy number loss	See cases	GLikely benign
Select item 424998	NM_032531.4(KIRREL3):c.404G>A (p.Arg135His)	KIRREL3 (R135H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211309	NM_032531.4(KIRREL3):c.88G>A (p.Val30Met)	KIRREL3, KIRREL3-AS1 (V30M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 129420	NM_032531.4(KIRREL3):c.116T>A (p.Phe39Tyr)	KIRREL3, KIRREL3-AS1 (F39Y)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 129419	NM_032531.4(KIRREL3):c.103G>A (p.Ala35Thr)	KIRREL3-AS1, KIRREL3 (A35T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2886	NM_032531.4(KIRREL3):c.118C>T (p.Arg40Trp)	KIRREL3, KIRREL3-AS1 (R40W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 4	GUncertain significance