RGPD4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 58900	GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)x3	CD8B2, ECRG4 +33 more	Copy number gain	See cases	GUncertain significance
Select item 57562	GRCh38/hg38 2q12.2-12.3(chr2:106260759-107904531)x1	CD8B2, GACAT1 +15 more	Copy number loss	See cases	GUncertain significance
Select item 560118	Single allele	CD8B2, GACAT1 +13 more	Deletion	not provided	GUncertain significance
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 545240	NC_000002.12:g.(?_106445028)_(107839483_?)del	CD8B2, GACAT1 +11 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 151421	GRCh38/hg38 2q12.3(chr2:107822694-107860072)x3	RGPD4, RGPD4-AS1	Copy number gain	See cases	GBenign
Select item 2470509	NM_182588.3(RGPD4):c.19T>C (p.Tyr7His)	RGPD4 (Y7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380682	NM_182588.3(RGPD4):c.22G>C (p.Gly8Arg)	RGPD4 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153705	NM_182588.3(RGPD4):c.29G>A (p.Arg10Gln)	RGPD4 (R10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512881	NM_182588.3(RGPD4):c.29G>C (p.Arg10Pro)	RGPD4 (R10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303132	NM_182588.3(RGPD4):c.40T>C (p.Ser14Pro)	RGPD4 (S14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371213	NM_182588.3(RGPD4):c.68G>C (p.Arg23Pro)	RGPD4 (R23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590151	NM_182588.3(RGPD4):c.80C>T (p.Thr27Met)	RGPD4 (T27M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153704	NM_182588.3(RGPD4):c.275C>T (p.Thr92Ile)	RGPD4 (T92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601439	NM_182588.3(RGPD4):c.302C>A (p.Ala101Glu)	RGPD4 (A101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223262	NM_182588.3(RGPD4):c.388G>A (p.Ala130Thr)	RGPD4 (A130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392812	NM_182588.3(RGPD4):c.560G>A (p.Arg187His)	RGPD4 (R187H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468773	NM_182588.3(RGPD4):c.592C>T (p.Arg198Cys)	RGPD4 (R198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405037	NM_182588.3(RGPD4):c.619G>T (p.Val207Phe)	RGPD4 (V207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398360	NM_182588.3(RGPD4):c.677G>C (p.Ser226Thr)	RGPD4 (S226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358969	NM_182588.3(RGPD4):c.712G>A (p.Ala238Thr)	RGPD4 (A238T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598213	NM_182588.3(RGPD4):c.1000T>G (p.Leu334Val)	RGPD4 (L334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283500	NM_182588.3(RGPD4):c.1025A>G (p.Asn342Ser)	RGPD4 (N342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153690	NM_182588.3(RGPD4):c.1052G>A (p.Arg351Gln)	RGPD4 (R351Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511724	NM_182588.3(RGPD4):c.1277G>A (p.Gly426Asp)	RGPD4 (G426D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343180	NM_182588.3(RGPD4):c.1316C>G (p.Thr439Ser)	RGPD4 (T439S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 585104	NM_182588.3(RGPD4):c.1335G>A (p.Trp445Ter)	RGPD4 (W445*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 2382623	NM_182588.3(RGPD4):c.1364G>A (p.Arg455Gln)	RGPD4 (R455Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463521	NM_182588.3(RGPD4):c.1373T>C (p.Leu458Pro)	RGPD4 (L458P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651235	NM_182588.3(RGPD4):c.1461A>G (p.Val487=)	RGPD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2253688	NM_182588.3(RGPD4):c.1556C>T (p.Pro519Leu)	RGPD4 (P519L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153691	NM_182588.3(RGPD4):c.1576A>G (p.Thr526Ala)	RGPD4 (T526A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532668	NM_182588.3(RGPD4):c.1596G>T (p.Trp532Cys)	RGPD4 (W532C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400594	NM_182588.3(RGPD4):c.1596G>C (p.Trp532Cys)	RGPD4 (W532C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476290	NM_182588.3(RGPD4):c.1669C>A (p.Gln557Lys)	RGPD4 (Q557K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463800	NM_182588.3(RGPD4):c.1705C>T (p.His569Tyr)	RGPD4 (H569Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153692	NM_182588.3(RGPD4):c.1733A>T (p.His578Leu)	RGPD4 (H578L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286397	NM_182588.3(RGPD4):c.1823A>G (p.Lys608Arg)	RGPD4 (K608R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153693	NM_182588.3(RGPD4):c.1834C>T (p.Pro612Ser)	RGPD4 (P612S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153694	NM_182588.3(RGPD4):c.1851A>G (p.Ile617Met)	RGPD4 (I617M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153695	NM_182588.3(RGPD4):c.1870C>T (p.Pro624Ser)	RGPD4 (P624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153696	NM_182588.3(RGPD4):c.1877C>T (p.Pro626Leu)	RGPD4 (P626L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238062	NM_182588.3(RGPD4):c.1957G>A (p.Val653Ile)	RGPD4 (V653I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458764	NM_182588.3(RGPD4):c.2087C>A (p.Ala696Glu)	RGPD4 (A696E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310762	NM_182588.3(RGPD4):c.2102C>T (p.Ser701Phe)	RGPD4 (S701F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399958	NM_182588.3(RGPD4):c.2120A>G (p.Glu707Gly)	RGPD4 (E707G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536906	NM_182588.3(RGPD4):c.2180A>T (p.Asp727Val)	RGPD4 (D727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153698	NM_182588.3(RGPD4):c.2200A>G (p.Lys734Glu)	RGPD4 (K734E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235276	NM_182588.3(RGPD4):c.2230A>C (p.Lys744Gln)	RGPD4 (K744Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391978	NM_182588.3(RGPD4):c.2236A>G (p.Met746Val)	RGPD4 (M746V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399671	NM_182588.3(RGPD4):c.2237T>C (p.Met746Thr)	RGPD4 (M746T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320685	NM_182588.3(RGPD4):c.2302T>G (p.Ser768Ala)	RGPD4 (S768A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651236	NM_182588.3(RGPD4):c.2316G>A (p.Ala772=)	RGPD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3153699	NM_182588.3(RGPD4):c.2339C>T (p.Thr780Ile)	RGPD4 (T780I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569198	NM_182588.3(RGPD4):c.2449C>G (p.Gln817Glu)	RGPD4 (Q817E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313260	NM_182588.3(RGPD4):c.2460G>T (p.Lys820Asn)	RGPD4 (K820N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153700	NM_182588.3(RGPD4):c.2505G>T (p.Lys835Asn)	RGPD4 (K835N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465531	NM_182588.3(RGPD4):c.2548G>C (p.Asp850His)	RGPD4 (D850H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153701	NM_182588.3(RGPD4):c.2565A>G (p.Gly855=)	RGPD4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2459176	NM_182588.3(RGPD4):c.2591G>A (p.Gly864Glu)	RGPD4 (G864E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366590	NM_182588.3(RGPD4):c.2597C>T (p.Pro866Leu)	RGPD4 (P866L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601843	NM_182588.3(RGPD4):c.2641T>A (p.Ser881Thr)	RGPD4 (S881T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153702	NM_182588.3(RGPD4):c.2671A>G (p.Arg891Gly)	RGPD4 (R891G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153703	NM_182588.3(RGPD4):c.2698A>G (p.Lys900Glu)	RGPD4 (K900E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398185	NM_182588.3(RGPD4):c.2707T>C (p.Ser903Pro)	RGPD4 (S903P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344936	NM_182588.3(RGPD4):c.2806G>A (p.Glu936Lys)	RGPD4 (E936K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513981	NM_182588.3(RGPD4):c.2841C>A (p.Phe947Leu)	RGPD4 (F947L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472640	NM_182588.3(RGPD4):c.2851G>T (p.Asp951Tyr)	RGPD4 (D951Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651237	NM_182588.3(RGPD4):c.2883G>A (p.Val961=)	RGPD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2313202	NM_182588.3(RGPD4):c.2894A>C (p.Gln965Pro)	RGPD4 (Q965P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358046	NM_182588.3(RGPD4):c.2923G>C (p.Val975Leu)	RGPD4 (V975L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220476	NM_182588.3(RGPD4):c.2923G>A (p.Val975Ile)	RGPD4 (V975I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227150	NM_182588.3(RGPD4):c.2982G>C (p.Lys994Asn)	RGPD4 (K994N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622992	NM_182588.3(RGPD4):c.2993G>A (p.Gly998Asp)	RGPD4 (G998D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557291	NM_182588.3(RGPD4):c.3023G>T (p.Cys1008Phe)	RGPD4 (C1008F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356417	NM_182588.3(RGPD4):c.3023G>A (p.Cys1008Tyr)	RGPD4 (C1008Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542299	NM_182588.3(RGPD4):c.3028A>C (p.Lys1010Gln)	RGPD4 (K1010Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404038	NM_182588.3(RGPD4):c.3034G>A (p.Ala1012Thr)	RGPD4 (A1012T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470214	NM_182588.3(RGPD4):c.3047A>T (p.Asn1016Ile)	RGPD4 (N1016I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296355	NM_182588.3(RGPD4):c.3074A>G (p.Asp1025Gly)	RGPD4 (D1025G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332312	NM_182588.3(RGPD4):c.3080C>A (p.Ala1027Asp)	RGPD4 (A1027D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607255	NM_182588.3(RGPD4):c.3104A>G (p.Asp1035Gly)	RGPD4 (D1035G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153706	NM_182588.3(RGPD4):c.3107T>A (p.Ile1036Asn)	RGPD4 (I1036N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526187	NM_182588.3(RGPD4):c.3163G>C (p.Glu1055Gln)	RGPD4 (E1055Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554354	NM_182588.3(RGPD4):c.3184T>C (p.Ser1062Pro)	RGPD4 (S1062P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251937	NM_182588.3(RGPD4):c.3225G>T (p.Arg1075Ser)	RGPD4 (R1075S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598747	NM_182588.3(RGPD4):c.3250A>T (p.Asn1084Tyr)	RGPD4 (N1084Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316707	NM_182588.3(RGPD4):c.3253T>A (p.Leu1085Ile)	RGPD4 (L1085I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384901	NM_182588.3(RGPD4):c.3271G>A (p.Glu1091Lys)	RGPD4 (E1091K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593933	NM_182588.3(RGPD4):c.3344C>T (p.Thr1115Met)	RGPD4 (T1115M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496153	NM_182588.3(RGPD4):c.3380A>G (p.Asp1127Gly)	RGPD4 (D1127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153708	NM_182588.3(RGPD4):c.3382A>G (p.Arg1128Gly)	RGPD4 (R1128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391523	NM_182588.3(RGPD4):c.3391A>C (p.Met1131Leu)	RGPD4 (M1131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356071	NM_182588.3(RGPD4):c.3398C>T (p.Ser1133Leu)	RGPD4 (S1133L)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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