KIRREL2[gene] and "single gene"[properties] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2550760	NM_199180.4(KIRREL2):c.12G>A (p.Met4Ile)	KIRREL2 (M4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462272	NM_199180.4(KIRREL2):c.14G>A (p.Arg5Gln)	KIRREL2 (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288726	NM_199180.4(KIRREL2):c.34C>G (p.Leu12Val)	KIRREL2 (L12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115164	NM_199180.4(KIRREL2):c.97C>G (p.Leu33Val)	KIRREL2 (L33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115157	NM_199180.4(KIRREL2):c.179G>A (p.Gly60Glu)	KIRREL2 (G60E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372211	NM_199180.4(KIRREL2):c.188T>C (p.Leu63Pro)	KIRREL2 (L63P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460252	NM_199180.4(KIRREL2):c.221G>C (p.Arg74Pro)	KIRREL2 (R74P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377231	NM_199180.4(KIRREL2):c.244G>C (p.Ala82Pro)	KIRREL2 (A82P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 92039	NM_199180.4(KIRREL2):c.343G>A (p.Ala115Thr)	KIRREL2 (A115T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3115161	NM_199180.4(KIRREL2):c.425C>G (p.Ala142Gly)	KIRREL2 (A142G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115162	NM_199180.4(KIRREL2):c.445C>T (p.Arg149Cys)	KIRREL2 (R149C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288721	NM_199180.4(KIRREL2):c.553G>A (p.Val185Met)	KIRREL2 (V135M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411447	NM_199180.4(KIRREL2):c.598G>T (p.Ala200Ser)	KIRREL2 (A150S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777469	NM_199180.4(KIRREL2):c.614G>A (p.Arg205Gln)	KIRREL2 (R155Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2525140	NM_199180.4(KIRREL2):c.662T>C (p.Leu221Pro)	KIRREL2 (L171P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115163	NM_199180.4(KIRREL2):c.668T>C (p.Leu223Pro)	KIRREL2 (L173P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463580	NM_199180.4(KIRREL2):c.745C>G (p.Gln249Glu)	KIRREL2 (Q249E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458060	NM_199180.4(KIRREL2):c.889G>T (p.Val297Leu)	KIRREL2 (V247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469510	NM_199180.4(KIRREL2):c.989C>T (p.Ser330Phe)	KIRREL2 (S330F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115148	NM_199180.4(KIRREL2):c.1003T>C (p.Trp335Arg)	KIRREL2 (W335R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289681	NM_199180.4(KIRREL2):c.1006C>T (p.Arg336Cys)	KIRREL2 (R336C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242827	NM_199180.4(KIRREL2):c.1046G>A (p.Gly349Asp)	KIRREL2 (G349D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115149	NM_199180.4(KIRREL2):c.1061T>C (p.Leu354Pro)	KIRREL2 (L354P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304207	NM_199180.4(KIRREL2):c.1105G>A (p.Asp369Asn)	KIRREL2 (D369N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620267	NM_199180.4(KIRREL2):c.1117T>A (p.Tyr373Asn)	KIRREL2 (Y323N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115150	NM_199180.4(KIRREL2):c.1120G>A (p.Val374Met)	KIRREL2 (V374M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115151	NM_199180.4(KIRREL2):c.1123T>C (p.Cys375Arg)	KIRREL2 (C325R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115152	NM_199180.4(KIRREL2):c.1132G>A (p.Glu378Lys)	KIRREL2 (E378K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330585	NM_199180.4(KIRREL2):c.1170G>T (p.Glu390Asp)	KIRREL2 (E340D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115153	NM_199180.4(KIRREL2):c.1174C>G (p.Arg392Gly)	KIRREL2 (R342G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253021	NM_199180.4(KIRREL2):c.1211T>C (p.Leu404Pro)	KIRREL2 (L404P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288728	NM_199180.4(KIRREL2):c.1237G>A (p.Gly413Ser)	KIRREL2 (G413S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975906	NM_199180.4(KIRREL2):c.1275del (p.Ala426fs)	KIRREL2 (A376fs +1 more)	Deletion (frameshift variant)	Epilepsy +1 more	GUncertain significance
Select item 2239291	NM_199180.4(KIRREL2):c.1322C>T (p.Ala441Val)	KIRREL2 (A391V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115154	NM_199180.4(KIRREL2):c.1336C>T (p.Arg446Trp)	KIRREL2 (R446W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291390	NM_199180.4(KIRREL2):c.1397T>G (p.Ile466Ser)	KIRREL2 (I466S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288727	NM_199180.4(KIRREL2):c.1469G>T (p.Arg490Leu)	KIRREL2 (R440L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526473	NM_199180.4(KIRREL2):c.1561A>G (p.Thr521Ala)	KIRREL2 (T471A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288720	NM_199180.4(KIRREL2):c.1613A>G (p.Lys538Arg)	KIRREL2 (K488R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115155	NM_199180.4(KIRREL2):c.1669G>A (p.Asp557Asn)	KIRREL2 (D557N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288725	NM_199180.4(KIRREL2):c.1706C>T (p.Thr569Ile)	KIRREL2 (T519I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315299	NM_199180.4(KIRREL2):c.1724G>A (p.Arg575Gln)	KIRREL2 (R575Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3115156	NM_199180.4(KIRREL2):c.1759G>C (p.Val587Leu)	KIRREL2 (V552L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602950	NM_199180.4(KIRREL2):c.1820G>A (p.Arg607Gln)	KIRREL2 (R572Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288724	NM_199180.4(KIRREL2):c.1849G>A (p.Glu617Lys)	KIRREL2 (E617K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115158	NM_199180.4(KIRREL2):c.2069C>A (p.Pro690His)	KIRREL2 (P640H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3115159	NM_199180.4(KIRREL2):c.2103C>T (p.His701=)	KIRREL2 (P562S +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3288723	NM_199180.4(KIRREL2):c.2105C>T (p.Pro702Leu)	KIRREL2 (P652L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288722	NM_199180.4(KIRREL2):c.2106G>A (p.Pro702=)	KIRREL2 (A613T +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3115160	NM_199180.4(KIRREL2):c.2106G>T (p.Pro702=)	KIRREL2 (A563S +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2519567	NM_199180.4(KIRREL2):c.2107C>T (p.Arg703Cys)	KIRREL2 (R668C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 51