18085[HGNC] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 1237395	NM_015584.5(POLDIP2):c.161+30del	POLDIP2, TMEM199	Deletion (intron variant)	not provided	GBenign
Select item 1205722	NM_015584.5(POLDIP2):c.107C>T (p.Ala36Val)	POLDIP2, TMEM199 (A36V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1249093	NM_015584.5(POLDIP2):c.84dup (p.Pro29fs)	POLDIP2, TMEM199 (P29fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 1236990	NM_015584.5(POLDIP2):c.81A>C (p.Pro27=)	POLDIP2, TMEM199	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1273735	NM_015584.5(POLDIP2):c.25= (p.Ala9=)	POLDIP2, TMEM199	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 1284156	NM_015584.5(POLDIP2):c.-58_-57dup	POLDIP2, TMEM199	Duplication (5 prime UTR variant)	not provided	GBenign
Select item 3048564	NM_152464.3(TMEM199):c.-7del	TMEM199	Deletion (5 prime UTR variant)	TMEM199-related disorder	GLikely benign
Select item 2200444	NM_152464.3(TMEM199):c.13_14del (p.Leu5fs)	TMEM199 (L5fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2473207	NM_152464.3(TMEM199):c.16C>G (p.Leu6Val)	TMEM199 (L6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1944543	NM_152464.3(TMEM199):c.16C>T (p.Leu6Phe)	TMEM199 (L6F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309548	NM_152464.3(TMEM199):c.19G>A (p.Ala7Thr)	TMEM199 (A7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040797	NM_152464.3(TMEM199):c.20C>T (p.Ala7Val)	TMEM199 (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218965	NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu)	TMEM199 (A7E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 751242	NM_152464.3(TMEM199):c.36G>A (p.Val12=)	TMEM199	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 223000	NM_152464.3(TMEM199):c.40G>C (p.Ala14Pro)	TMEM199 (A14P)	Single nucleotide variant (missense variant)	TMEM199-CDG	GPathogenic
Select item 1637053	NM_152464.3(TMEM199):c.44T>C (p.Leu15Ser)	TMEM199 (L15S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2186017	NM_152464.3(TMEM199):c.74G>A (p.Arg25Gln)	TMEM199 (R25Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517332	NM_152464.3(TMEM199):c.74G>T (p.Arg25Leu)	TMEM199 (R25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218964	NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro)	TMEM199 (R31P)	Single nucleotide variant (missense variant)	TMEM199-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3179087	NM_152464.3(TMEM199):c.100C>T (p.Leu34Phe)	TMEM199 (L34F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1346522	NM_152464.3(TMEM199):c.110C>T (p.Ala37Val)	TMEM199 (A37V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740946	NM_152464.3(TMEM199):c.138T>C (p.Asp46=)	LOC130060544, TMEM199	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2294695	NM_152464.3(TMEM199):c.143C>G (p.Ser48Cys)	LOC130060544, TMEM199 (S48C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470590	NM_152464.3(TMEM199):c.151C>T (p.Pro51Ser)	LOC130060544, TMEM199 (P51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773876	NM_152464.3(TMEM199):c.156A>G (p.Gln52=)	LOC130060544, TMEM199	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3179088	NM_152464.3(TMEM199):c.175C>T (p.Leu59Phe)	LOC130060544, TMEM199 (L59F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1637417	NM_152464.3(TMEM199):c.177C>T (p.Leu59=)	LOC130060544, TMEM199	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072950	NM_152464.3(TMEM199):c.211+1G>A	LOC130060544, TMEM199	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3031931	NM_152464.3(TMEM199):c.211+10A>G	LOC130060544, TMEM199	Single nucleotide variant (intron variant)	TMEM199-related disorder	GLikely benign
Select item 752369	NM_152464.3(TMEM199):c.211+10A>C	LOC130060544, TMEM199	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979464	NM_152464.3(TMEM199):c.211+16C>T	LOC130060544, TMEM199	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2296075	NM_152464.3(TMEM199):c.215C>T (p.Ser72Phe)	TMEM199 (S72F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3000279	NM_152464.3(TMEM199):c.230A>G (p.His77Arg)	TMEM199 (H77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445808	NM_152464.3(TMEM199):c.256T>C (p.Tyr86His)	TMEM199 (Y86H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2486965	NM_152464.3(TMEM199):c.268G>A (p.Val90Ile)	TMEM199 (V90I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1509259	NM_152464.3(TMEM199):c.284G>A (p.Arg95Gln)	TMEM199 (R95Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272020	NM_152464.3(TMEM199):c.286-120C>T	TMEM199	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2246603	NM_152464.3(TMEM199):c.335A>G (p.Asn112Ser)	TMEM199 (N112S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1372956	NM_152464.3(TMEM199):c.342A>C (p.Glu114Asp)	TMEM199 (E114D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3179089	NM_152464.3(TMEM199):c.349C>T (p.Arg117Trp)	TMEM199 (R117W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2052366	NM_152464.3(TMEM199):c.350G>A (p.Arg117Gln)	TMEM199 (R117Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226147	NM_152464.3(TMEM199):c.364G>A (p.Val122Ile)	TMEM199 (V122I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737851	NM_152464.3(TMEM199):c.375+8C>T	TMEM199	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181374	NM_152464.3(TMEM199):c.375+18A>G	TMEM199	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326443	NM_152464.3(TMEM199):c.375+125G>A	TMEM199	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252201	NM_152464.3(TMEM199):c.375+233dup	TMEM199	Duplication (intron variant)	not provided	GBenign
Select item 1283279	NM_152464.3(TMEM199):c.376-66dup	TMEM199	Duplication (intron variant)	not provided	GBenign
Select item 1603968	NM_152464.3(TMEM199):c.376-19T>A	TMEM199	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1954661	NM_152464.3(TMEM199):c.376-17C>T	TMEM199	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2726412	NM_152464.3(TMEM199):c.376-10T>C	TMEM199	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 223001	NM_152464.3(TMEM199):c.376-1G>A	TMEM199	Single nucleotide variant (splice acceptor variant)	TMEM199-CDG	GPathogenic
Select item 1443278	NM_152464.3(TMEM199):c.376G>C (p.Asp126His)	TMEM199 (D126H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 759989	NM_152464.3(TMEM199):c.414G>A (p.Lys138=)	TMEM199	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914850	NM_152464.3(TMEM199):c.419-11C>T	MIR4723, TMEM199	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2196059	NM_152464.3(TMEM199):c.419-6C>G	MIR4723, TMEM199	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2286562	NM_152464.3(TMEM199):c.428T>C (p.Leu143Ser)	TMEM199 (L143S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713210	NM_152464.3(TMEM199):c.450C>T (p.Ile150=)	TMEM199	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931204	NM_152464.3(TMEM199):c.455A>G (p.Asn152Ser)	TMEM199 (N152S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2332581	NM_152464.3(TMEM199):c.467C>T (p.Thr156Met)	TMEM199 (T156M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783775	NM_152464.3(TMEM199):c.472G>A (p.Val158Ile)	TMEM199 (V158I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 672167	NM_152464.3(TMEM199):c.496C>G (p.Leu166Val)	TMEM199 (L166V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3179091	NM_152464.3(TMEM199):c.526G>T (p.Ala176Ser)	TMEM199 (A176S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1990506	NM_152464.3(TMEM199):c.527C>T (p.Ala176Val)	TMEM199 (A176V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3179092	NM_152464.3(TMEM199):c.530C>T (p.Ser177Leu)	TMEM199 (S177L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1283071	NM_152464.3(TMEM199):c.531+32dup	TMEM199	Duplication (intron variant)	not provided	GBenign
Select item 1196732	NM_152464.3(TMEM199):c.532-114C>T	TMEM199	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056956	NM_152464.3(TMEM199):c.532C>T (p.Arg178Trp)	TMEM199 (R178W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1675662	NM_152464.3(TMEM199):c.540A>G (p.Leu180=)	TMEM199	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2269281	NM_152464.3(TMEM199):c.542C>G (p.Ala181Gly)	TMEM199 (A181G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1990512	NM_152464.3(TMEM199):c.547T>C (p.Leu183=)	TMEM199	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037684	NM_152464.3(TMEM199):c.569G>A (p.Gly190Asp)	TMEM199 (G190D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397204	NM_152464.3(TMEM199):c.577G>A (p.Glu193Lys)	TMEM199 (E193K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557741	NM_152464.3(TMEM199):c.586G>A (p.Val196Ile)	TMEM199 (V196I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1897992	NM_152464.3(TMEM199):c.592G>T (p.Val198Leu)	TMEM199 (V198L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044842	NM_152464.3(TMEM199):c.595C>G (p.Arg199Gly)	TMEM199 (R199G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2903633	NM_152464.3(TMEM199):c.596G>A (p.Arg199Gln)	TMEM199 (R199Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218081	NM_152464.3(TMEM199):c.*207T>C	TMEM199	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	RAB34, RPL23A +29 more	Duplication	not provided	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 88