"PreventionGenetics, part of Exact Sciences"[submitter] AND "KIRREL3"[ - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048794	NM_032531.4(KIRREL3):c.2202C>T (p.Ser734=)	KIRREL3	Single nucleotide variant (synonymous variant)	KIRREL3-related disorder	GLikely benign
Select item 725838	NM_032531.4(KIRREL3):c.2118T>G (p.Leu706=)	KIRREL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3038741	NM_032531.4(KIRREL3):c.2073C>T (p.Tyr691=)	KIRREL3	Single nucleotide variant (synonymous variant)	KIRREL3-related disorder	GLikely benign
Select item 3057601	NM_032531.4(KIRREL3):c.1977C>T (p.Pro659=)	KIRREL3	Single nucleotide variant (synonymous variant)	KIRREL3-related disorder	GLikely benign
Select item 1782509	NM_032531.4(KIRREL3):c.1911C>T (p.Tyr637=)	KIRREL3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2635172	NM_032531.4(KIRREL3):c.1807-8G>A	KIRREL3	Single nucleotide variant (intron variant)	KIRREL3-related disorder	GUncertain significance
Select item 3029285	NM_032531.4(KIRREL3):c.1696+93G>T	KIRREL3 (E597*)	Single nucleotide variant (nonsense +1 more)	KIRREL3-related disorder	GUncertain significance
Select item 3039909	NM_032531.4(KIRREL3):c.1589-5C>T	KIRREL3	Single nucleotide variant (intron variant)	KIRREL3-related disorder	GLikely benign
Select item 3034986	NM_032531.4(KIRREL3):c.1588+4C>T	KIRREL3	Single nucleotide variant (intron variant)	KIRREL3-related disorder	GLikely benign
Select item 3036122	NM_032531.4(KIRREL3):c.1407G>A (p.Thr469=)	KIRREL3	Single nucleotide variant (synonymous variant)	KIRREL3-related disorder	GLikely benign
Select item 3058194	NM_032531.4(KIRREL3):c.1176C>T (p.Asp392=)	KIRREL3	Single nucleotide variant (synonymous variant)	KIRREL3-related disorder	GLikely benign
Select item 2887	NM_032531.4(KIRREL3):c.1007G>A (p.Arg336Gln)	KIRREL3 (R336Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2633801	NM_032531.4(KIRREL3):c.1006C>T (p.Arg336Trp)	KIRREL3 (R336W)	Single nucleotide variant (missense variant)	KIRREL3-related disorder	GUncertain significance
Select item 129428	NM_032531.4(KIRREL3):c.568A>G (p.Ile190Val)	KIRREL3 (I190V)	Single nucleotide variant (missense variant)	KIRREL3-related disorder	GBenign
Select item 3047941	NM_032531.4(KIRREL3):c.434-4G>A	KIRREL3	Single nucleotide variant (intron variant)	KIRREL3-related disorder	GLikely benign
Select item 2642539	NM_032531.4(KIRREL3):c.375C>T (p.Tyr125=)	KIRREL3	Single nucleotide variant (synonymous variant)	KIRREL3-related disorder +1 more	GLikely benign
Select item 3039937	NM_032531.4(KIRREL3):c.198G>A (p.Thr66=)	KIRREL3	Single nucleotide variant (synonymous variant)	KIRREL3-related disorder	GLikely benign
Select item 1336110	NM_032531.4(KIRREL3):c.174G>A (p.Val58=)	KIRREL3	Single nucleotide variant (synonymous variant)	KIRREL3-related disorder +1 more	GBenign/Likely benign
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