RSPO4[gene] and "single gene"[properties] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156771	NM_001029871.4(RSPO4):c.691G>A (p.Gly231Ser)	RSPO4 (G231S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056446	NM_001029871.4(RSPO4):c.681G>A (p.Pro227=)	RSPO4	Single nucleotide variant (synonymous variant)	RSPO4-related disorder	GLikely benign
Select item 3156770	NM_001029871.4(RSPO4):c.680C>A (p.Pro227Gln)	RSPO4 (P227Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156769	NM_001029871.4(RSPO4):c.673G>C (p.Val225Leu)	RSPO4 (V163L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156768	NM_001029871.4(RSPO4):c.661C>T (p.Arg221Cys)	RSPO4 (R221C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517395	NM_001029871.4(RSPO4):c.634C>T (p.Arg212Cys)	RSPO4 (R150C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205881	NM_001029871.4(RSPO4):c.620G>A (p.Gly207Asp)	RSPO4 (G207D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156767	NM_001029871.4(RSPO4):c.578A>G (p.Gln193Arg)	RSPO4 (Q193R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3040155	NM_001029871.4(RSPO4):c.571C>T (p.Pro191Ser)	RSPO4 (P191S)	Single nucleotide variant (missense variant +1 more)	RSPO4-related disorder	GBenign
Select item 2471384	NM_001029871.4(RSPO4):c.570T>G (p.Cys190Trp)	RSPO4 (C190W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3315587	NM_001029871.4(RSPO4):c.547G>C (p.Val183Leu)	RSPO4 (V183L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298142	NM_001029871.4(RSPO4):c.526G>A (p.Glu176Lys)	RSPO4 (E176K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156766	NM_001029871.4(RSPO4):c.476C>T (p.Ser159Leu)	RSPO4 (S159L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156764	NM_001029871.4(RSPO4):c.458A>G (p.Asn153Ser)	RSPO4 (N153S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352533	NM_001029871.4(RSPO4):c.455A>C (p.His152Pro)	RSPO4 (H152P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2526022	NM_001029871.4(RSPO4):c.436G>A (p.Gly146Ser)	RSPO4 (G146S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2311607	NM_001029871.4(RSPO4):c.432G>T (p.Trp144Cys)	RSPO4 (W144C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395497	NM_001029871.4(RSPO4):c.424G>A (p.Gly142Ser)	RSPO4 (G142S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383614	NM_001029871.4(RSPO4):c.397C>T (p.Arg133Trp)	RSPO4 (R133W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315589	NM_001029871.4(RSPO4):c.367C>T (p.Pro123Ser)	RSPO4 (P123S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053701	NM_001029871.4(RSPO4):c.360C>T (p.Pro120=)	RSPO4	Single nucleotide variant (synonymous variant)	RSPO4-related disorder	GLikely benign
Select item 1192	NM_001029871.4(RSPO4):c.353G>A (p.Cys118Tyr)	RSPO4 (C118Y)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 3256625	NM_001029871.4(RSPO4):c.335_338del (p.Tyr112fs)	RSPO4 (Y112fs)	Deletion (frameshift variant)	Anonychia	GPathogenic
Select item 2342937	NM_001029871.4(RSPO4):c.338T>C (p.Leu113Ser)	RSPO4 (L113S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315588	NM_001029871.4(RSPO4):c.334T>C (p.Tyr112His)	RSPO4 (Y112H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593438	NM_001029871.4(RSPO4):c.326G>C (p.Arg109Thr)	RSPO4 (R109T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500661	NM_001029871.4(RSPO4):c.320G>A (p.Cys107Tyr)	RSPO4 (C107Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191	NM_001029871.4(RSPO4):c.319T>C (p.Cys107Arg)	RSPO4 (C107R)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 784403	NM_001029871.4(RSPO4):c.317G>A (p.Arg106Gln)	RSPO4 (R106Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 30845	NM_001029871.4(RSPO4):c.301C>T (p.Gln101Ter)	RSPO4 (Q101*)	Single nucleotide variant (nonsense)	Anonychia	GPathogenic
Select item 1193	NM_001029871.4(RSPO4):c.218G>A (p.Cys73Tyr)	RSPO4 (C73Y)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 30847	NM_001029871.4(RSPO4):c.199G>C (p.Gly67Arg)	RSPO4 (G67R)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 1190	NM_001029871.4(RSPO4):c.194A>G (p.Gln65Arg)	RSPO4 (Q65R)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 30846	NM_001029871.4(RSPO4):c.190C>T (p.Arg64Cys)	RSPO4 (R64C)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 3156763	NM_001029871.4(RSPO4):c.184G>A (p.Gly62Ser)	RSPO4 (G62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156762	NM_001029871.4(RSPO4):c.172A>G (p.Ile58Val)	RSPO4 (I58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2157189	NM_001029871.4(RSPO4):c.145_166dup (p.Leu56fs)	RSPO4 (L56fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3156761	NM_001029871.4(RSPO4):c.155A>G (p.Gln52Arg)	RSPO4 (Q52R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408914	NM_001029871.4(RSPO4):c.136G>A (p.Gly46Ser)	RSPO4 (G46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388955	NM_001029871.4(RSPO4):c.134A>G (p.Asn45Ser)	RSPO4 (N45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1194	NM_001029871.4(RSPO4):c.98dup (p.Asn34fs)	RSPO4 (N34fs)	Duplication (frameshift variant)	Anonychia	GUncertain significance
Select item 521270	NM_001029871.4(RSPO4):c.79+1G>A	RSPO4	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 3256888	NM_001029871.4(RSPO4):c.76_79del (p.Gln26fs)	RSPO4 (Q26fs)	Deletion (frameshift variant)	Anonychia	GPathogenic
Select item 2271338	NM_001029871.4(RSPO4):c.51G>T (p.Met17Ile)	RSPO4 (M17I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368079	NM_001029871.4(RSPO4):c.40G>T (p.Ala14Ser)	RSPO4 (A14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 45