ClinVar for Gene (Select 343637) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3315588	NM_001029871.4(RSPO4):c.334T>C (p.Tyr112His)	RSPO4 (Y112H)	Single nucleotide variant (missense variant)	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 3256888	NM_001029871.4(RSPO4):c.76_79del (p.Gln26fs)	RSPO4 (Q26fs)	Deletion (frameshift variant)	Anonychia	GPathogenic
Select item 3256625	NM_001029871.4(RSPO4):c.335_338del (p.Tyr112fs)	RSPO4 (Y112fs)	Deletion (frameshift variant)	Anonychia	GPathogenic
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 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 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 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 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 3156761	NM_001029871.4(RSPO4):c.155A>G (p.Gln52Arg)	RSPO4 (Q52R)	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 3053701	NM_001029871.4(RSPO4):c.360C>T (p.Pro120=)	RSPO4	Single nucleotide variant (synonymous variant)	RSPO4-related disorder	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 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684900	GRCh37/hg19 20p13(chr20:438458-1083208)x3	ANGPT4, CSNK2A1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2684898	GRCh37/hg19 20p13(chr20:61569-1794919)x3	ANGPT4, C20orf202 +31 more	Copy number gain	not provided	GUncertain significance
Select item 2671604	Single allele	ANGPT4, C20orf96 +19 more	Deletion	not provided	GPathogenic
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
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 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
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 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 2500661	NM_001029871.4(RSPO4):c.320G>A (p.Cys107Tyr)	RSPO4 (C107Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2408914	NM_001029871.4(RSPO4):c.136G>A (p.Gly46Ser)	RSPO4 (G46S)	Single nucleotide variant (missense variant)	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 2388955	NM_001029871.4(RSPO4):c.134A>G (p.Asn45Ser)	RSPO4 (N45S)	Single nucleotide variant (missense variant)	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 2368079	NM_001029871.4(RSPO4):c.40G>T (p.Ala14Ser)	RSPO4 (A14S)	Single nucleotide variant (missense variant)	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 2342937	NM_001029871.4(RSPO4):c.338T>C (p.Leu113Ser)	RSPO4 (L113S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2271338	NM_001029871.4(RSPO4):c.51G>T (p.Met17Ile)	RSPO4 (M17I)	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 2157189	NM_001029871.4(RSPO4):c.145_166dup (p.Leu56fs)	RSPO4 (L56fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 1047898	GRCh37/hg19 20p13(chr20:67778-974841)	ANGPT4, C20orf96 +19 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 816101	GRCh37/hg19 20p13(chr20:61568-1305971)x1	ANGPT4, C20orf202 +25 more	Copy number loss	not provided	GPathogenic
Select item 816099	GRCh37/hg19 20p13(chr20:61568-2269777)x1	DEFB132, FAM110A +34 more	Copy number loss	not provided	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 688959	GRCh37/hg19 20p13(chr20:728577-1237670)x4	ANGPT4, C20orf202 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564643	GRCh37/hg19 20p13(chr20:61568-2010334)x1	ANGPT4, C20orf202 +33 more	Copy number loss	not provided	GLikely pathogenic
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 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443574	GRCh37/hg19 20p13(chr20:381794-1268103)x3	ANGPT4, C20orf202 +13 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	NSFL1C, PCED1A +48 more	Copy number gain	See cases	GUncertain significance
Select item 441596	GRCh37/hg19 20p13(chr20:61568-1651420)x1	ANGPT4, C20orf202 +31 more	Copy number loss	See cases	GLikely pathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 393750	GRCh37/hg19 20p13(chr20:121521-2073612)x1	ANGPT4, C20orf202 +32 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 202236	GRCh37/hg19 20p13(chr20:71023-2129746)x1	NRSN2, SIRPD +34 more	Copy number loss	See cases	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 154852	GRCh38/hg38 20p13(chr20:80106-1246891)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 150565	GRCh38/hg38 20p13(chr20:80093-1246766)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 146515	GRCh38/hg38 20p13(chr20:89939-1246891)x3	ANGPT4, C20orf202 +76 more	Copy number gain	See cases	GUncertain significance
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC129391148, LOC129391149 +110 more	Copy number loss	See cases	GPathogenic
Select item 58941	GRCh38/hg38 20p13(chr20:89939-975656)x1	ANGPT4, C20orf96 +64 more	Copy number loss	See cases	GPathogenic
Select item 58940	GRCh38/hg38 20p13(chr20:828964-1241192)x3	ANGPT4, C20orf202 +21 more	Copy number gain	See cases	GUncertain significance
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 57307	GRCh38/hg38 20p13(chr20:89939-1028206)x3	ANGPT4, C20orf96 +65 more	Copy number gain	See cases	GPathogenic
Select item 57188	GRCh38/hg38 20p13(chr20:89939-1360110)x1	ANGPT4, C20orf202 +87 more	Copy number loss	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 30847	NM_001029871.4(RSPO4):c.199G>C (p.Gly67Arg)	RSPO4 (G67R)	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 30845	NM_001029871.4(RSPO4):c.301C>T (p.Gln101Ter)	RSPO4 (Q101*)	Single nucleotide variant (nonsense)	Anonychia	GPathogenic
Select item 1194	NM_001029871.4(RSPO4):c.98dup (p.Asn34fs)	RSPO4 (N34fs)	Duplication (frameshift variant)	Anonychia	GUncertain significance
Select item 1193	NM_001029871.4(RSPO4):c.218G>A (p.Cys73Tyr)	RSPO4 (C73Y)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 1192	NM_001029871.4(RSPO4):c.353G>A (p.Cys118Tyr)	RSPO4 (C118Y)	Single nucleotide variant (missense variant)	Anonychia	GPathogenic
Select item 1191	NM_001029871.4(RSPO4):c.319T>C (p.Cys107Arg)	RSPO4 (C107R)	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

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Links from Gene

Items: 98