13829[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 334378	NM_025216.2(WNT10A):c.-433C>G	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334379	NM_025216.2(WNT10A):c.-400T>G	WNT10A, LOC129935618	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GLikely benign
Select item 334380	NM_025216.2(WNT10A):c.-370C>A	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334381	NM_025216.2(WNT10A):c.-358G>A	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334382	NM_025216.2(WNT10A):c.-341A>G	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334383	NM_025216.2(WNT10A):c.-312C>T	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GLikely benign
Select item 334384	NM_025216.2(WNT10A):c.-285C>T	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334385	NM_025216.2(WNT10A):c.-270G>C	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334386	NM_025216.2(WNT10A):c.-249G>C	LOC129935618, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +3 more	GUncertain significance
Select item 334387	NM_025216.2(WNT10A):c.-203dup	LOC129935619, WNT10A	Duplication (genic upstream transcript variant)	Selective tooth agenesis +2 more	GLikely benign
Select item 334389	NM_025216.2(WNT10A):c.-194dup	LOC129935619, WNT10A	Duplication (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334388	NM_025216.2(WNT10A):c.-202G>C	LOC129935619, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334390	NM_025216.2(WNT10A):c.-153G>A	LOC129935619, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 334391	NM_025216.2(WNT10A):c.-149G>T	LOC129935619, WNT10A	Single nucleotide variant (genic upstream transcript variant)	Selective tooth agenesis +2 more	GUncertain significance
Select item 897794	NM_025216.3(WNT10A):c.-123C>A	LOC129935619, WNT10A	Single nucleotide variant (5 prime UTR variant)	Odonto-onycho-dermal dysplasia +2 more	GUncertain significance
Select item 898940	NM_025216.3(WNT10A):c.-70G>C	LOC129935619, WNT10A	Single nucleotide variant (5 prime UTR variant)	Odonto-onycho-dermal dysplasia +2 more	GUncertain significance
Select item 1067133	NM_025216.3(WNT10A):c.-17_13del (p.Met1_His5del)	WNT10A	Deletion (inframe_deletion +1 more)	Odonto-onycho-dermal dysplasia +1 more	GLikely pathogenic
Select item 464177	NC_000002.12:g.(?_218880976)_(218893291_?)del	WNT10A, LOC129935620 +5 more	Deletion	Tooth agenesis, selective, 4 +1 more	GPathogenic
Select item 2921455	NM_025216.3(WNT10A):c.1A>G (p.Met1Val)	WNT10A (M1V)	Single nucleotide variant (missense variant +1 more)	Tooth agenesis, selective, 4 +1 more	GPathogenic
Select item 1466056	NM_025216.3(WNT10A):c.1A>T (p.Met1Leu)	WNT10A (M1L)	Single nucleotide variant (missense variant +1 more)	Tooth agenesis, selective, 4 +1 more	GPathogenic
Select item 2937327	NM_025216.3(WNT10A):c.5_27del (p.Gly2fs)	WNT10A (G2fs)	Deletion (frameshift variant +1 more)	Tooth agenesis, selective, 4 +1 more	GPathogenic
Select item 1904869	NM_025216.3(WNT10A):c.3G>A (p.Met1Ile)	WNT10A (M1I)	Single nucleotide variant (missense variant +1 more)	Tooth agenesis, selective, 4 +1 more	GLikely pathogenic
Select item 707602	NM_025216.3(WNT10A):c.4G>A (p.Gly2Ser)	WNT10A (G2S)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1496269	NM_025216.3(WNT10A):c.7A>T (p.Ser3Cys)	WNT10A (S3C)	Single nucleotide variant (missense variant)	Odonto-onycho-dermal dysplasia +1 more	GUncertain significance
Select item 2931898	NM_025216.3(WNT10A):c.21C>G (p.Arg7=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1925254	NM_025216.3(WNT10A):c.21C>T (p.Arg7=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 2576981	NM_025216.3(WNT10A):c.26G>A (p.Trp9Ter)	WNT10A (W9*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 4	GPathogenic
Select item 4465	NM_025216.3(WNT10A):c.27G>A (p.Trp9Ter)	WNT10A (W9*)	Single nucleotide variant (nonsense)	Odonto-onycho-dermal dysplasia	GPathogenic
Select item 2943978	NM_025216.3(WNT10A):c.33G>A (p.Arg11=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 2179570	NM_025216.3(WNT10A):c.36C>G (p.Leu12=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 1123129	NM_025216.3(WNT10A):c.36C>T (p.Leu12=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1916936	NM_025216.3(WNT10A):c.37C>T (p.Arg13Ter)	WNT10A (R13*)	Single nucleotide variant (nonsense)	Odonto-onycho-dermal dysplasia +1 more	GPathogenic
Select item 1917753	NM_025216.3(WNT10A):c.38G>C (p.Arg13Pro)	WNT10A (R13P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1967207	NM_025216.3(WNT10A):c.39A>T (p.Arg13=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 1621817	NM_025216.3(WNT10A):c.42C>A (p.Pro14=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1086480	NM_025216.3(WNT10A):c.45G>A (p.Gln15=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 1076644	NM_025216.3(WNT10A):c.55_56dup (p.Pro20fs)	WNT10A (P20fs)	Microsatellite (frameshift variant)	Tooth agenesis, selective, 4 +1 more	GPathogenic
Select item 2091934	NM_025216.3(WNT10A):c.54G>C (p.Pro18=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1559981	NM_025216.3(WNT10A):c.54G>A (p.Pro18=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2945642	NM_025216.3(WNT10A):c.59C>A (p.Pro20Gln)	WNT10A (P20Q)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4 +1 more	GUncertain significance
Select item 3242353	NM_025216.3(WNT10A):c.62delinsGA (p.Ala21fs)	WNT10A (A21fs)	Indel (frameshift variant)	Odonto-onycho-dermal dysplasia	GPathogenic
Select item 1143585	NM_025216.3(WNT10A):c.62C>G (p.Ala21Gly)	WNT10A (A21G)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2940532	NM_025216.3(WNT10A):c.63G>T (p.Ala21=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2026165	NM_025216.3(WNT10A):c.68G>A (p.Trp23Ter)	WNT10A (W23*)	Single nucleotide variant (nonsense)	Odonto-onycho-dermal dysplasia +1 more	GPathogenic
Select item 2931680	NM_025216.3(WNT10A):c.69G>A (p.Trp23Ter)	WNT10A (W23*)	Single nucleotide variant (nonsense)	Tooth agenesis, selective, 4 +1 more	GPathogenic
Select item 1954812	NM_025216.3(WNT10A):c.72G>T (p.Val24=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 1575385	NM_025216.3(WNT10A):c.72G>A (p.Val24=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 2928912	NM_025216.3(WNT10A):c.75C>T (p.Leu25=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2096327	NM_025216.3(WNT10A):c.75C>G (p.Leu25=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2927165	NM_025216.3(WNT10A):c.76C>T (p.Leu26=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2949194	NM_025216.3(WNT10A):c.78G>T (p.Leu26=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2943271	NM_025216.3(WNT10A):c.78G>A (p.Leu26=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2927420	NM_025216.3(WNT10A):c.78G>C (p.Leu26=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2928203	NM_025216.3(WNT10A):c.81C>T (p.Phe27=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1404347	NM_025216.3(WNT10A):c.85del (p.Leu29fs)	WNT10A (L29fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 4 +1 more	GPathogenic
Select item 334392	NM_025216.3(WNT10A):c.85C>T (p.Leu29=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +2 more	GBenign
Select item 2925667	NM_025216.3(WNT10A):c.87A>G (p.Leu29=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1625543	NM_025216.3(WNT10A):c.88C>T (p.Leu30=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 1934885	NM_025216.3(WNT10A):c.90G>C (p.Leu30=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 1634649	NM_025216.3(WNT10A):c.94C>T (p.Leu32=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 2940359	NM_025216.3(WNT10A):c.99_105dup (p.Met36fs)	WNT10A (M36fs)	Duplication (frameshift variant)	Tooth agenesis, selective, 4 +1 more	GPathogenic
Select item 2954365	NM_025216.3(WNT10A):c.105C>G (p.Ala35=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 2943454	NM_025216.3(WNT10A):c.111C>T (p.Pro37=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2630137	NM_025216.3(WNT10A):c.112A>T (p.Arg38Trp)	WNT10A (R38W)	Single nucleotide variant (missense variant)	WNT10A-related disorder	GUncertain significance
Select item 1950565	NM_025216.3(WNT10A):c.113+1G>A	WNT10A	Single nucleotide variant (splice donor variant)	Tooth agenesis, selective, 4 +1 more	GLikely pathogenic
Select item 2947572	NM_025216.3(WNT10A):c.113+7C>A	WNT10A	Single nucleotide variant (intron variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1589835	NM_025216.3(WNT10A):c.113+8C>A	WNT10A	Single nucleotide variant (intron variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2922062	NM_025216.3(WNT10A):c.113+10C>T	WNT10A	Single nucleotide variant (intron variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2924858	NM_025216.3(WNT10A):c.113+17T>C	WNT10A	Single nucleotide variant (intron variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2926789	NM_025216.3(WNT10A):c.113+19C>T	WNT10A	Single nucleotide variant (intron variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1259665	NM_025216.3(WNT10A):c.114-56T>C	WNT10A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2928340	NM_025216.3(WNT10A):c.114-10A>G	WNT10A	Single nucleotide variant (intron variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1907741	NM_025216.3(WNT10A):c.114-10A>T	WNT10A	Single nucleotide variant (intron variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 2933323	NM_025216.3(WNT10A):c.114-8G>A	WNT10A	Single nucleotide variant (intron variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1153585	NM_025216.3(WNT10A):c.125A>G (p.Asn42Ser)	WNT10A (N42S)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2430419	NM_025216.3(WNT10A):c.131T>C (p.Ile44Thr)	WNT10A (I44T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074523	NM_025216.3(WNT10A):c.132T>A (p.Ile44=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2028879	NM_025216.3(WNT10A):c.133C>T (p.Leu45=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 1128390	NM_025216.3(WNT10A):c.135G>T (p.Leu45=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1614112	NM_025216.3(WNT10A):c.138C>T (p.Asp46=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 2947030	NM_025216.3(WNT10A):c.152del (p.Pro51fs)	WNT10A (P51fs)	Deletion (frameshift variant)	Tooth agenesis, selective, 4 +1 more	GPathogenic
Select item 334393	NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu)	WNT10A (P50L)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1128951	NM_025216.3(WNT10A):c.150C>T (p.Pro50=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1123826	NM_025216.3(WNT10A):c.150C>A (p.Pro50=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 2050234	NM_025216.3(WNT10A):c.152C>T (p.Pro51Leu)	WNT10A (P51L)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4 +1 more	GUncertain significance
Select item 1082175	NM_025216.3(WNT10A):c.159C>T (p.Pro53=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 2946158	NM_025216.3(WNT10A):c.162G>A (p.Val54=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 894811	NM_025216.3(WNT10A):c.166A>G (p.Asn56Asp)	WNT10A (N56D)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, 4 +2 more	GUncertain significance
Select item 1139770	NM_025216.3(WNT10A):c.168T>C (p.Asn56=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 2941228	NM_025216.3(WNT10A):c.174C>T (p.Asn58=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1596370	NM_025216.3(WNT10A):c.177A>T (p.Thr59=)	WNT10A	Single nucleotide variant (synonymous variant)	Tooth agenesis, selective, 4 +1 more	GLikely benign
Select item 1673709	NM_025216.3(WNT10A):c.184C>T (p.Leu62=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign
Select item 1625405	NM_025216.3(WNT10A):c.186A>G (p.Leu62=)	WNT10A	Single nucleotide variant (synonymous variant)	Odonto-onycho-dermal dysplasia +1 more	GLikely benign

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