6897[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 3324417	NM_152295.5(TARS1):c.16G>C (p.Ala6Pro)	LOC129993776, TARS1 (A6P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173897	NM_152295.5(TARS1):c.26C>T (p.Pro9Leu)	LOC129993776, TARS1 (P9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173900	NM_152295.5(TARS1):c.39G>C (p.Met13Ile)	LOC129993776, TARS1 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782449	NM_152295.5(TARS1):c.62G>A (p.Gly21Asp)	TARS1 (G21D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3173878	NM_152295.5(TARS1):c.123T>G (p.Asp41Glu)	TARS1 (D29E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173884	NM_152295.5(TARS1):c.146C>T (p.Pro49Leu)	TARS1 (P49L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173886	NM_152295.5(TARS1):c.163T>C (p.Tyr55His)	TARS1 (Y55H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045118	NM_152295.5(TARS1):c.197C>T (p.Ala66Val)	TARS1 (A54V +1 more)	Single nucleotide variant (missense variant +1 more)	TARS1-related disorder	GLikely benign
Select item 3173896	NM_152295.5(TARS1):c.214C>G (p.Leu72Val)	TARS1 (L60V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771370	NM_152295.5(TARS1):c.231A>C (p.Glu77Asp)	TARS1 (E77D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2655386	NM_152295.5(TARS1):c.284C>A (p.Ala95Glu)	TARS1 (A83E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3173898	NM_152295.5(TARS1):c.299C>T (p.Thr100Ile)	TARS1 (T100I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041502	NM_152295.5(TARS1):c.330-954C>T	TARS1	Single nucleotide variant (intron variant)	TARS1-related disorder	GBenign
Select item 3037640	NM_152295.5(TARS1):c.330-4dup	TARS1	Duplication (intron variant)	TARS1-related disorder	GLikely benign
Select item 3060916	NM_152295.5(TARS1):c.330-4del	TARS1	Deletion (intron variant)	TARS1-related disorder	GLikely benign
Select item 3059544	NM_152295.5(TARS1):c.330-6_330-4del	TARS1	Deletion (intron variant)	TARS1-related disorder	GLikely benign
Select item 3055549	NM_152295.5(TARS1):c.330-5_330-4del	TARS1	Deletion (intron variant)	TARS1-related disorder	GLikely benign
Select item 3037841	NM_152295.5(TARS1):c.330-7_330-4del	TARS1	Deletion (intron variant)	TARS1-related disorder	GLikely benign
Select item 716827	NM_152295.5(TARS1):c.352G>A (p.Val118Ile)	TARS1 (V151I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3173899	NM_152295.5(TARS1):c.392G>A (p.Arg131His)	TARS1 (R164H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324415	NM_152295.5(TARS1):c.407A>G (p.Asp136Gly)	TARS1 (D169G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771371	NM_152295.5(TARS1):c.525C>T (p.Tyr175=)	TARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3324414	NM_152295.5(TARS1):c.551A>G (p.Tyr184Cys)	TARS1 (Y184C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173901	NM_152295.5(TARS1):c.559A>G (p.Met187Val)	TARS1 (M175V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173902	NM_152295.5(TARS1):c.568G>A (p.Glu190Lys)	TARS1 (E190K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622143	NM_152295.5(TARS1):c.590A>G (p.Asn197Ser)	TARS1 (N197S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 689399	NM_152295.5(TARS1):c.680T>C (p.Leu227Pro)	TARS1 (L227P +1 more)	Single nucleotide variant (missense variant +1 more)	Trichothiodystrophy 7, nonphotosensitive	GPathogenic
Select item 3056225	NM_152295.5(TARS1):c.693+6T>C	TARS1	Single nucleotide variant (intron variant)	TARS1-related disorder	GBenign
Select item 2617849	NM_152295.5(TARS1):c.707A>G (p.Lys236Arg)	TARS1 (K224R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173903	NM_152295.5(TARS1):c.784C>T (p.Arg262Trp)	TARS1 (R295W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464680	NM_152295.5(TARS1):c.785G>A (p.Arg262Gln)	TARS1 (R250Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461909	NM_152295.5(TARS1):c.805A>T (p.Thr269Ser)	TARS1 (T257S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173904	NM_152295.5(TARS1):c.806C>T (p.Thr269Met)	TARS1 (T257M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173905	NM_152295.5(TARS1):c.821C>A (p.Ala274Asp)	TARS1 (A262D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 689398	NM_152295.5(TARS1):c.826A>G (p.Lys276Glu)	TARS1 (K276E +1 more)	Single nucleotide variant (missense variant +1 more)	Trichothiodystrophy 7, nonphotosensitive	GPathogenic
Select item 2612327	NM_152295.5(TARS1):c.835A>C (p.Lys279Gln)	TARS1 (K267Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173906	NM_152295.5(TARS1):c.871A>G (p.Met291Val)	TARS1 (M279V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173907	NM_152295.5(TARS1):c.892T>C (p.Tyr298His)	TARS1 (Y298H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033579	NM_152295.5(TARS1):c.977T>C (p.Ile326Thr)	TARS1 (I314T +2 more)	Single nucleotide variant (missense variant +1 more)	TARS1-related disorder	GLikely benign
Select item 1334924	NM_152295.5(TARS1):c.984+27T>A	TARS1	Single nucleotide variant (intron variant)	Trichothiodystrophy 7, nonphotosensitive +1 more	GBenign
Select item 1334925	NM_152295.5(TARS1):c.985-35G>A	TARS1	Single nucleotide variant (intron variant)	Trichothiodystrophy 7, nonphotosensitive +1 more	GBenign
Select item 3173873	NM_152295.5(TARS1):c.1028G>C (p.Cys343Ser)	TARS1 (C376S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173874	NM_152295.5(TARS1):c.1114G>A (p.Val372Ile)	TARS1 (V360I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173875	NM_152295.5(TARS1):c.1115T>C (p.Val372Ala)	TARS1 (V405A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527576	NM_152295.5(TARS1):c.1136A>G (p.Asn379Ser)	TARS1 (N412S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3040429	NM_152295.5(TARS1):c.1155C>A (p.Thr385=)	TARS1	Single nucleotide variant (synonymous variant +1 more)	TARS1-related disorder	GBenign
Select item 3173876	NM_152295.5(TARS1):c.1178G>A (p.Ser393Asn)	TARS1 (S381N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173877	NM_152295.5(TARS1):c.1180G>A (p.Glu394Lys)	TARS1 (E394K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620986	NM_152295.5(TARS1):c.1208A>G (p.Lys403Arg)	TARS1 (K436R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478706	NM_152295.5(TARS1):c.1255A>G (p.Met419Val)	LOC126807348, TARS1 (M419V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173879	NM_152295.5(TARS1):c.1262A>G (p.Asp421Gly)	LOC126807348, TARS1 (D454G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173880	NM_152295.5(TARS1):c.1271C>G (p.Pro424Arg)	LOC126807348, TARS1 (P424R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173881	NM_152295.5(TARS1):c.1291C>T (p.Pro431Ser)	LOC126807348, TARS1 (P431S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173882	NM_152295.5(TARS1):c.1304C>A (p.Ala435Asp)	LOC126807348, TARS1 (A423D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173883	NM_152295.5(TARS1):c.1309T>G (p.Phe437Val)	LOC126807348, TARS1 (F425V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524236	NM_152295.5(TARS1):c.1358C>T (p.Thr453Ile)	LOC126807348, TARS1 (T441I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173885	NM_152295.5(TARS1):c.1501C>T (p.Arg501Cys)	LOC126807348, TARS1 (R489C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324416	NM_152295.5(TARS1):c.1504C>T (p.Pro502Ser)	LOC126807348, TARS1 (P535S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055451	NM_152295.5(TARS1):c.1506G>A (p.Pro502=)	LOC126807348, TARS1	Single nucleotide variant (synonymous variant +1 more)	TARS1-related disorder	GBenign
Select item 3173887	NM_152295.5(TARS1):c.1652C>T (p.Ala551Val)	TARS1 (A539V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1334926	NM_152295.5(TARS1):c.1653G>A (p.Ala551=)	TARS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3173888	NM_152295.5(TARS1):c.1708A>G (p.Arg570Gly)	TARS1 (R570G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056095	NM_152295.5(TARS1):c.1731-9dup	TARS1	Duplication (intron variant)	TARS1-related disorder	GBenign
Select item 3042324	NM_152295.5(TARS1):c.1738G>T (p.Gly580Cys)	TARS1 (G568C +2 more)	Single nucleotide variant (missense variant +1 more)	TARS1-related disorder	GBenign
Select item 769298	NM_152295.5(TARS1):c.1739G>A (p.Gly580Asp)	TARS1 (G580D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3173889	NM_152295.5(TARS1):c.1893T>A (p.Asp631Glu)	TARS1 (D620E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 689397	NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter)	TARS1 (R638* +1 more)	Single nucleotide variant (nonsense +1 more)	Trichothiodystrophy 7, nonphotosensitive	GPathogenic
Select item 2491512	NM_152295.5(TARS1):c.1913G>T (p.Arg638Leu)	TARS1 (R627L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048199	NM_152295.5(TARS1):c.1927G>A (p.Asp643Asn)	TARS1 (D632N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622669	NM_152295.5(TARS1):c.1970C>T (p.Thr657Ile)	TARS1 (T646I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173890	NM_152295.5(TARS1):c.2006A>C (p.Gln669Pro)	TARS1 (Q669P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173891	NM_152295.5(TARS1):c.2078A>G (p.Asn693Ser)	TARS1 (N682S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519458	NM_152295.5(TARS1):c.2089G>A (p.Gly697Arg)	TARS1 (G686R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173892	NM_152295.5(TARS1):c.2095C>T (p.Arg699Cys)	TARS1 (R699C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459645	NM_152295.5(TARS1):c.2096G>A (p.Arg699His)	TARS1 (R699H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173893	NM_152295.5(TARS1):c.2102T>C (p.Ile701Thr)	TARS1 (I734T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173894	NM_152295.5(TARS1):c.2104T>C (p.Ser702Pro)	TARS1 (S691P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045081	NM_152295.5(TARS1):c.2115C>G (p.Ile705Met)	TARS1 (I694M +2 more)	Single nucleotide variant (missense variant +1 more)	TARS1-related disorder	GBenign
Select item 3173895	NM_152295.5(TARS1):c.2144G>A (p.Arg715His)	TARS1 (R715H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684412	GRCh37/hg19 5p13.3-13.2(chr5:33303213-34037349)x3	ADAMTS12, AMACR +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 979506	GRCh37/hg19 5p13.3(chr5:33318611-33493797)x1	TARS1	Copy number loss	not provided	GUncertain significance
Select item 979505	GRCh37/hg19 5p13.3(chr5:33255507-33768313)x3	TARS1, ADAMTS12	Copy number gain	not provided	GLikely benign
Select item 814678	GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1	TARS1, RXFP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563055	GRCh37/hg19 5p13.3(chr5:32427829-33458399)x3	SUB1, ZFR +2 more	Copy number gain	not provided	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic

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