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

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2479463	NM_001381853.1(CHML):c.1841A>G (p.Glu614Gly)	CHML, OPN3 (E614G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2468778	NM_001381853.1(CHML):c.1679C>T (p.Ser560Leu)	CHML, OPN3 (S560L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2384321	NM_001381853.1(CHML):c.1595C>T (p.Pro532Leu)	CHML, OPN3 (P532L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2247437	NM_001381853.1(CHML):c.1499C>G (p.Thr500Arg)	CHML, OPN3 (T500R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489425	NM_001381853.1(CHML):c.1484G>C (p.Cys495Ser)	CHML, OPN3 (C495S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2219342	NM_001381853.1(CHML):c.1469G>A (p.Arg490Gln)	OPN3, CHML (R490Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2555126	NM_001381853.1(CHML):c.1441C>G (p.Pro481Ala)	CHML, OPN3 (P481A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2495414	NM_001381853.1(CHML):c.1408T>A (p.Leu470Ile)	CHML, OPN3 (L470I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2345726	NM_001381853.1(CHML):c.1384G>C (p.Asp462His)	CHML, OPN3 (D462H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2551090	NM_001381853.1(CHML):c.1163G>T (p.Gly388Val)	CHML, OPN3 (G388V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2385559	NM_001381853.1(CHML):c.1087T>G (p.Phe363Val)	CHML, OPN3 (F363V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2379337	NM_001381853.1(CHML):c.1052G>A (p.Cys351Tyr)	CHML, OPN3 (C351Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2290702	NM_001381853.1(CHML):c.1015G>A (p.Val339Ile)	OPN3, CHML (V339I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2522966	NM_001381853.1(CHML):c.899T>G (p.Phe300Cys)	CHML, OPN3 (F300C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2209454	NM_001381853.1(CHML):c.788C>T (p.Thr263Ile)	CHML, OPN3 (T263I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2524458	NM_001381853.1(CHML):c.637A>G (p.Ile213Val)	CHML, OPN3 (I213V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2412138	NM_001381853.1(CHML):c.590A>T (p.Asp197Val)	CHML, OPN3 (D197V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2459704	NM_001381853.1(CHML):c.533A>C (p.Lys178Thr)	CHML, OPN3 (K178T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2330880	NM_001381853.1(CHML):c.314C>T (p.Ala105Val)	OPN3, CHML (A105V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2255122	NM_001381853.1(CHML):c.313G>A (p.Ala105Thr)	CHML, OPN3 (A105T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2598714	NM_001381853.1(CHML):c.284C>G (p.Thr95Ser)	CHML, OPN3 (T95S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606133	NM_001381853.1(CHML):c.269G>A (p.Arg90His)	CHML, OPN3 (R90H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2486533	NM_001381853.1(CHML):c.197A>G (p.Asn66Ser)	CHML, OPN3 (N66S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2552409	NM_001381853.1(CHML):c.137A>G (p.Asn46Ser)	CHML, OPN3 (N46S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2365180	NM_001381853.1(CHML):c.40A>G (p.Ile14Val)	OPN3, CHML (I14V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2326468	NM_014322.3(OPN3):c.289T>C (p.Phe97Leu)	OPN3, CHML (F97L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477134	NM_014322.3(OPN3):c.247A>T (p.Ile83Phe)	CHML, OPN3 (I83F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362589	NM_014322.3(OPN3):c.229C>T (p.His77Tyr)	OPN3, CHML (H77Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263206	NM_014322.3(OPN3):c.226A>G (p.Thr76Ala)	OPN3, CHML (T76A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495857	NM_014322.3(OPN3):c.211C>T (p.Arg71Trp)	CHML, OPN3 (R71W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569757	NM_014322.3(OPN3):c.166G>T (p.Val56Phe)	CHML, OPN3 (V56F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456773	NM_014322.3(OPN3):c.128G>A (p.Arg43His)	CHML, OPN3 (R43H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380084	NM_014322.3(OPN3):c.100C>T (p.Pro34Ser)	OPN3, CHML (P34S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394894	NM_014322.3(OPN3):c.52G>A (p.Ala18Thr)	OPN3, CHML (A18T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 34