"PreventionGenetics, part of Exact Sciences"[submitter] AND "KIRREL1"[ - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041679	NM_018240.7(KIRREL1):c.62C>T (p.Thr21Ile)	KIRREL1 (T21I)	Single nucleotide variant (missense variant +1 more)	KIRREL1-related disorder	GBenign
Select item 1301750	NM_018240.7(KIRREL1):c.115G>A (p.Val39Met)	KIRREL1 (V39M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 3034946	NM_018240.7(KIRREL1):c.232G>A (p.Ala78Thr)	KIRREL1 (A78T)	Single nucleotide variant (missense variant +1 more)	KIRREL1-related disorder	GLikely benign
Select item 3038564	NM_018240.7(KIRREL1):c.238G>A (p.Ala80Thr)	KIRREL1 (A80T)	Single nucleotide variant (missense variant +1 more)	KIRREL1-related disorder	GBenign
Select item 2525318	NM_018240.7(KIRREL1):c.329G>A (p.Arg110Gln)	KIRREL1 (R110Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3038995	NM_018240.7(KIRREL1):c.378C>T (p.Asp126=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GBenign
Select item 3033918	NM_018240.7(KIRREL1):c.477C>T (p.Asp159=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3050794	NM_018240.7(KIRREL1):c.510+9C>T	KIRREL1	Single nucleotide variant (intron variant)	KIRREL1-related disorder	GLikely benign
Select item 3048962	NM_018240.7(KIRREL1):c.1011C>G (p.Leu337=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3035208	NM_018240.7(KIRREL1):c.1080G>A (p.Ser360=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3043444	NM_018240.7(KIRREL1):c.1134C>T (p.Ile378=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3049720	NM_018240.7(KIRREL1):c.1269C>A (p.Arg423=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GBenign
Select item 3040530	NM_018240.7(KIRREL1):c.1419C>T (p.Thr473=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3041741	NM_018240.7(KIRREL1):c.1434C>T (p.Phe478=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3031523	NM_018240.7(KIRREL1):c.1497T>C (p.Ala499=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3036322	NM_018240.7(KIRREL1):c.1580-8C>T	KIRREL1, LOC126805884	Single nucleotide variant (intron variant)	KIRREL1-related disorder	GLikely benign
Select item 3036422	NM_018240.7(KIRREL1):c.1728G>A (p.Lys576=)	KIRREL1, LOC126805884	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 2634900	NM_018240.7(KIRREL1):c.1756C>T (p.Arg586Cys)	KIRREL1, LOC126805884 (R486C +1 more)	Single nucleotide variant (missense variant)	KIRREL1-related disorder	GUncertain significance
Select item 3032375	NM_018240.7(KIRREL1):c.1821C>T (p.Asn607=)	KIRREL1, LOC126805884	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3040875	NM_018240.7(KIRREL1):c.1845G>A (p.Pro615=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3041781	NM_018240.7(KIRREL1):c.1902C>T (p.Asp634=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3032827	NM_018240.7(KIRREL1):c.2004T>C (p.Pro668=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign
Select item 3048067	NM_018240.7(KIRREL1):c.2052C>T (p.Tyr684=)	KIRREL1	Single nucleotide variant (synonymous variant)	KIRREL1-related disorder	GLikely benign

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Items: 23