"Ambry Genetics"[submitter] AND "C1RL"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2334234	NM_016546.4(C1RL):c.1454G>A (p.Gly485Asp)	C1RL (G443D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135817	NM_016546.4(C1RL):c.1431C>G (p.Asp477Glu)	C1RL (D435E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560445	NM_016546.4(C1RL):c.1307G>A (p.Ser436Asn)	C1RL (S394N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135816	NM_016546.4(C1RL):c.1273G>A (p.Glu425Lys)	C1RL (E383K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2525511	NM_016546.4(C1RL):c.1265T>C (p.Val422Ala)	C1RL (V380A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2596435	NM_016546.4(C1RL):c.1210G>A (p.Ala404Thr)	C1RL (A362T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366536	NM_016546.4(C1RL):c.1123G>A (p.Val375Ile)	C1RL (V333I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262424	NM_016546.4(C1RL):c.1103G>A (p.Arg368His)	C1RL (R368H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135815	NM_016546.4(C1RL):c.1102C>T (p.Arg368Cys)	C1RL (R326C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221066	NM_016546.4(C1RL):c.1084G>A (p.Asp362Asn)	C1RL (D320N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468282	NM_016546.4(C1RL):c.1070C>T (p.Pro357Leu)	C1RL (P315L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344138	NM_016546.4(C1RL):c.1063G>A (p.Val355Ile)	C1RL (V355I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2468430	NM_016546.4(C1RL):c.1012G>A (p.Gly338Arg)	C1RL (G338R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262425	NM_016546.4(C1RL):c.997T>C (p.Ser333Pro)	C1RL (S333P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539488	NM_016546.4(C1RL):c.979G>A (p.Asp327Asn)	C1RL (D285N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262427	NM_016546.4(C1RL):c.967G>A (p.Val323Ile)	C1RL (V323I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3262428	NM_016546.4(C1RL):c.953C>T (p.Pro318Leu)	C1RL (P276L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300786	NM_016546.4(C1RL):c.951C>A (p.His317Gln)	C1RL (H275Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361813	NM_016546.4(C1RL):c.931A>T (p.Met311Leu)	C1RL (M269L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3135826	NM_016546.4(C1RL):c.835C>A (p.Leu279Ile)	C1RL (L237I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135825	NM_016546.4(C1RL):c.827G>A (p.Arg276Lys)	C1RL (R234K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135824	NM_016546.4(C1RL):c.812C>A (p.Ala271Asp)	C1RL (A229D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135823	NM_016546.4(C1RL):c.809G>C (p.Gly270Ala)	C1RL (G270A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350846	NM_016546.4(C1RL):c.793C>T (p.His265Tyr)	C1RL (H265Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3135822	NM_016546.4(C1RL):c.772T>C (p.Trp258Arg)	C1RL (W216R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338680	NM_016546.4(C1RL):c.740G>A (p.Gly247Asp)	C1RL (G247D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601492	NM_016546.4(C1RL):c.694T>C (p.Cys232Arg)	C1RL (C232R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135821	NM_016546.4(C1RL):c.692T>A (p.Val231Asp)	C1RL (S247T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262426	NM_016546.4(C1RL):c.608C>T (p.Ala203Val)	C1RL (A203V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2589992	NM_016546.4(C1RL):c.569A>G (p.Lys190Arg)	C1RL (K190R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135820	NM_016546.4(C1RL):c.548C>T (p.Ala183Val)	C1RL (A183V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135819	NM_016546.4(C1RL):c.499T>C (p.Tyr167His)	C1RL (Y167H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2507608	NM_016546.4(C1RL):c.434C>T (p.Ser145Leu)	C1RL (S145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588217	NM_016546.4(C1RL):c.358G>T (p.Gly120Cys)	C1RL (G120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135818	NM_016546.4(C1RL):c.310G>A (p.Val104Ile)	C1RL (V104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462411	NM_016546.4(C1RL):c.283G>C (p.Ala95Pro)	C1RL, LOC126861433 (A95P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273789	NM_016546.4(C1RL):c.217G>C (p.Ala73Pro)	C1RL, C1RL-AS1 +1 more (A73P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2342280	NM_016546.4(C1RL):c.150G>C (p.Gln50His)	C1RL, C1RL-AS1 +1 more (Q50H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135828	NM_016546.4(C1RL):c.92G>T (p.Gly31Val)	C1RL, C1RL-AS1 +1 more (G31V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2265905	NM_016546.4(C1RL):c.85C>A (p.Leu29Ile)	C1RL, C1RL-AS1 +1 more (L29I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2320770	NM_016546.4(C1RL):c.79C>G (p.Leu27Val)	C1RL, C1RL-AS1 +1 more (L27V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 41