RPH3A[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59818	GRCh38/hg38 12q24.13(chr12:112303430-112676526)x3	HECTD4, LOC130008808 +5 more	Copy number gain	See cases	GPathogenic
Select item 59819	GRCh38/hg38 12q24.13(chr12:112307532-112722967)x3	HECTD4, LOC130008809 +5 more	Copy number gain	See cases	GPathogenic
Select item 2527308	NM_001143854.2(RPH3A):c.31A>G (p.Asn11Asp)	RPH3A (N11D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2282733	NM_001143854.2(RPH3A):c.34C>G (p.Arg12Gly)	RPH3A (R12G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3315162	NM_001143854.2(RPH3A):c.35G>T (p.Arg12Leu)	RPH3A (R12L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2392699	NM_001143854.2(RPH3A):c.55C>T (p.Arg19Trp)	RPH3A (R19W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2376787	NM_001143854.2(RPH3A):c.110C>A (p.Pro37His)	RPH3A (P33H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2270108	NM_001143854.2(RPH3A):c.115G>T (p.Gly39Cys)	RPH3A (G39C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2346016	NM_001143854.2(RPH3A):c.134G>A (p.Arg45Lys)	RPH3A (R41K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3155996	NM_001143854.2(RPH3A):c.152C>G (p.Thr51Ser)	RPH3A (T51S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476727	NM_001143854.2(RPH3A):c.178A>G (p.Arg60Gly)	RPH3A (R56G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 928908	NM_001143854.2(RPH3A):c.229G>A (p.Gly77Arg)	RPH3A (G10R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156000	NM_001143854.2(RPH3A):c.268G>A (p.Val90Met)	RPH3A (V86M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615703	NM_001143854.2(RPH3A):c.348G>T (p.Glu116Asp)	RPH3A (E112D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3315159	NM_001143854.2(RPH3A):c.363C>A (p.Asn121Lys)	RPH3A (N54K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347119	NM_001143854.2(RPH3A):c.389C>A (p.Thr130Asn)	RPH3A (T63N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2564307	NM_001143854.2(RPH3A):c.400C>G (p.Leu134Val)	RPH3A (L130V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156001	NM_001143854.2(RPH3A):c.454C>T (p.Arg152Cys)	RPH3A (R152C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597309	NM_001143854.2(RPH3A):c.496C>T (p.Leu166Phe)	RPH3A (L162F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339637	NM_001143854.2(RPH3A):c.586C>A (p.His196Asn)	RPH3A (H129N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156002	NM_001143854.2(RPH3A):c.595C>T (p.Arg199Trp)	RPH3A (R132W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296357	NM_001143854.2(RPH3A):c.602C>T (p.Pro201Leu)	RPH3A (P134L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 787101	NM_001143854.2(RPH3A):c.608G>A (p.Arg203Gln)	RPH3A (R136Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3351392	NM_001143854.2(RPH3A):c.611-8T>G	RPH3A	Single nucleotide variant (intron variant)	RPH3A-related condition	GLikely benign
Select item 3156003	NM_001143854.2(RPH3A):c.635C>T (p.Pro212Leu)	RPH3A (P208L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216627	NM_001143854.2(RPH3A):c.638G>A (p.Gly213Asp)	RPH3A (G146D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541848	NM_001143854.2(RPH3A):c.673G>C (p.Gly225Arg)	RPH3A (G158R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 741613	NM_001143854.2(RPH3A):c.696C>T (p.Pro232=)	RPH3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3315160	NM_001143854.2(RPH3A):c.740A>G (p.Asp247Gly)	RPH3A (D243G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 801393	NM_001143854.2(RPH3A):c.763G>C (p.Gly255Arg)	RPH3A (G188R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2230191	NM_001143854.2(RPH3A):c.764G>C (p.Gly255Ala)	RPH3A (G255A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156004	NM_001143854.2(RPH3A):c.785G>A (p.Arg262Gln)	RPH3A (R262Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527421	NM_001143854.2(RPH3A):c.794C>A (p.Ala265Glu)	RPH3A (A261E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399268	NM_001143854.2(RPH3A):c.817G>T (p.Val273Phe)	RPH3A (V273F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3353998	NM_001143854.2(RPH3A):c.861G>A (p.Ala287=)	RPH3A	Single nucleotide variant (synonymous variant +1 more)	RPH3A-related condition	GLikely benign
Select item 2247841	NM_001143854.2(RPH3A):c.896G>A (p.Gly299Glu)	RPH3A (G232E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 781700	NM_001143854.2(RPH3A):c.978C>G (p.Ala326=)	RPH3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2524506	NM_001143854.2(RPH3A):c.1004G>A (p.Gly335Glu)	RPH3A (G331E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3351149	NM_001143854.2(RPH3A):c.1049G>A (p.Ser350Asn)	RPH3A (S283N +2 more)	Single nucleotide variant (missense variant +1 more)	RPH3A-related condition	GUncertain significance
Select item 2346425	NM_001143854.2(RPH3A):c.1207G>A (p.Asp403Asn)	RPH3A (D336N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 224156	NM_001143854.2(RPH3A):c.1349C>G (p.Thr450Ser)	RPH3A (T446S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609212	NM_001143854.2(RPH3A):c.1408G>T (p.Asp470Tyr)	RPH3A (D470Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155995	NM_001143854.2(RPH3A):c.1444G>A (p.Val482Ile)	RPH3A (V415I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607473	NM_001143854.2(RPH3A):c.1541T>A (p.Ile514Asn)	RPH3A (I510N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589039	NM_001143854.2(RPH3A):c.1562C>T (p.Pro521Leu)	RPH3A (P454L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2643344	NM_001143854.2(RPH3A):c.1584C>T (p.Thr528=)	RPH3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3155997	NM_001143854.2(RPH3A):c.1621C>A (p.Gln541Lys)	RPH3A (Q474K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3315161	NM_001143854.2(RPH3A):c.1627G>A (p.Glu543Lys)	RPH3A (E543K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155998	NM_001143854.2(RPH3A):c.1697G>A (p.Gly566Asp)	RPH3A (G562D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319272	NM_001143854.2(RPH3A):c.1915G>A (p.Val639Ile)	RPH3A (V572I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342380	NM_001143854.2(RPH3A):c.1990C>T (p.Arg664Cys)	RPH3A (R660C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155999	NM_001143854.2(RPH3A):c.2036T>C (p.Ile679Thr)	RPH3A (I612T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685456	GRCh37/hg19 12q24.13(chr12:113165027-113333806)x1	RPH3A	Copy number loss	not provided	GUncertain significance
Select item 1708192	GRCh37/hg19 12q24.13(chr12:112998335-113510817)x3	OAS2, OAS3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1252006	NC_000012.11:g.113120652_115362584del	CFAP73, DDX54 +17 more	Deletion	Radial dysplasia +1 more	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 59