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

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1390963	NM_000095.3(COMP):c.2065C>T (p.Arg689Trp)	COMP (R689W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2512325	NM_000095.3(COMP):c.2032G>A (p.Asp678Asn)	COMP (D678N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268934	NM_000095.3(COMP):c.2020G>A (p.Val674Met)	COMP (V674M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1105505	NM_000095.3(COMP):c.1988A>T (p.Gln663Leu)	COMP (Q663L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 597282	NM_000095.3(COMP):c.1981G>A (p.Glu661Lys)	COMP (E661K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 328611	NM_000095.3(COMP):c.1979C>G (p.Thr660Arg)	COMP (T660R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2482448	NM_000095.3(COMP):c.1888G>A (p.Val630Met)	COMP (V630M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424736	NM_000095.3(COMP):c.1882C>T (p.Arg628Cys)	COMP (R628C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 521870	NM_000095.3(COMP):c.1829A>G (p.Tyr610Cys)	COMP (Y610C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312024	NM_000095.3(COMP):c.1775C>G (p.Thr592Arg)	COMP (T592R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147935	NM_000095.3(COMP):c.1771G>A (p.Val591Ile)	COMP (V591I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338079	NM_000095.3(COMP):c.1738G>C (p.Val580Leu)	COMP (V580L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147933	NM_000095.3(COMP):c.1619A>T (p.Asp540Val)	COMP (D540V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530623	NM_000095.3(COMP):c.1593C>G (p.Phe531Leu)	COMP (F531L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147932	NM_000095.3(COMP):c.1555G>A (p.Val519Met)	COMP (V519M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2736854	NM_000095.3(COMP):c.1519G>A (p.Asp507Asn)	COMP (D507N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2544747	NM_000095.3(COMP):c.1518C>A (p.Asp506Glu)	COMP (D506E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1363000	NM_000095.3(COMP):c.1496G>T (p.Gly499Val)	COMP (G499V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2246048	NM_000095.3(COMP):c.1483G>A (p.Ala495Thr)	COMP (A495T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147931	NM_000095.3(COMP):c.1334G>C (p.Arg445Pro)	COMP (R445P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1497620	NM_000095.3(COMP):c.1331C>G (p.Ser444Cys)	COMP (S444C)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 1022415	NM_000095.3(COMP):c.1247C>A (p.Pro416Gln)	COMP (P416Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3147930	NM_000095.3(COMP):c.1246C>T (p.Pro416Ser)	COMP (P416S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236647	NM_000095.3(COMP):c.1217C>T (p.Ala406Val)	COMP (A406V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1522000	NM_000095.3(COMP):c.1196A>T (p.Asp399Val)	COMP (D399V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3147929	NM_000095.3(COMP):c.1142G>T (p.Arg381Leu)	COMP (R381L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1391824	NM_000095.3(COMP):c.1136G>A (p.Arg379Gln)	COMP (R379Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2477852	NM_000095.3(COMP):c.1097G>A (p.Gly366Asp)	COMP (G366D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147928	NM_000095.3(COMP):c.1072G>C (p.Asp358His)	COMP (D358H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238206	NM_000095.3(COMP):c.1054C>T (p.Arg352Trp)	COMP (R352W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3268933	NM_000095.3(COMP):c.1020C>G (p.Asp340Glu)	COMP (D340E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233819	NM_000095.3(COMP):c.958G>A (p.Gly320Arg)	COMP (G320R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285108	NM_000095.3(COMP):c.920G>A (p.Gly307Asp)	COMP (G307D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268935	NM_000095.3(COMP):c.856C>G (p.Gln286Glu)	COMP (Q286E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356376	NM_000095.3(COMP):c.786C>G (p.Asn262Lys)	COMP (N262K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3010069	NM_000095.3(COMP):c.769G>A (p.Val257Ile)	COMP (V257I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3147938	NM_000095.3(COMP):c.679C>A (p.Arg227Ser)	COMP (R227S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488696	NM_000095.3(COMP):c.644G>A (p.Gly215Asp)	COMP (G215D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 890213	NM_000095.3(COMP):c.643G>C (p.Gly215Arg)	COMP (G215R)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +3 more	GUncertain significance
Select item 1484193	NM_000095.3(COMP):c.477C>G (p.Ser159Arg)	COMP (S159R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3147937	NM_000095.3(COMP):c.412C>T (p.Pro138Ser)	COMP (P138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1055714	NM_000095.3(COMP):c.396C>G (p.Asn132Lys)	COMP (N132K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3147936	NM_000095.3(COMP):c.341G>C (p.Cys114Ser)	COMP (C114S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229235	NM_000095.3(COMP):c.268C>G (p.His90Asp)	COMP (H90D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268932	NM_000095.3(COMP):c.227A>G (p.Gln76Arg)	COMP (Q76R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268930	NM_000095.3(COMP):c.111A>C (p.Glu37Asp)	COMP (E37D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 888609	NM_000095.3(COMP):c.11A>C (p.Asp4Ala)	COMP (D4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity

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Items: 47