ClinVar for Gene (Select 81789) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177483	NM_030953.4(TIGD6):c.911C>G (p.Pro304Arg)	TIGD6 (P304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177482	NM_030953.4(TIGD6):c.770C>G (p.Thr257Arg)	TIGD6 (T257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177481	NM_030953.4(TIGD6):c.733C>T (p.Pro245Ser)	TIGD6 (P245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177479	NM_030953.4(TIGD6):c.670A>C (p.Met224Leu)	TIGD6 (M224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177478	NM_030953.4(TIGD6):c.625C>T (p.Arg209Trp)	TIGD6 (R209W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177477	NM_030953.4(TIGD6):c.1217C>A (p.Ala406Asp)	TIGD6 (A406D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607487	NM_030953.4(TIGD6):c.672G>T (p.Met224Ile)	TIGD6 (M224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590964	NM_030953.4(TIGD6):c.187G>A (p.Val63Met)	TIGD6 (V63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535250	NM_030953.4(TIGD6):c.1285A>C (p.Ile429Leu)	TIGD6 (I429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533268	NM_030953.4(TIGD6):c.416G>C (p.Cys139Ser)	TIGD6 (C139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521579	NM_030953.4(TIGD6):c.200G>A (p.Arg67Gln)	TIGD6 (R67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491396	NM_030953.4(TIGD6):c.1082G>T (p.Trp361Leu)	TIGD6 (W361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490426	NM_030953.4(TIGD6):c.416G>A (p.Cys139Tyr)	TIGD6 (C139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483329	NM_030953.4(TIGD6):c.821G>A (p.Arg274Lys)	TIGD6 (R274K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471907	NM_030953.4(TIGD6):c.594C>A (p.Asp198Glu)	TIGD6 (D198E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465335	NM_030953.4(TIGD6):c.723T>G (p.Ile241Met)	TIGD6 (I241M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462876	NM_030953.4(TIGD6):c.491T>C (p.Ile164Thr)	TIGD6 (I164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459707	NM_030953.4(TIGD6):c.830G>A (p.Arg277His)	TIGD6 (R277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425319	NC_000005.9:g.(?_147774340)_(149681936_?)del	ABLIM3, ADRB2 +23 more	Deletion	not provided	GUncertain significance
Select item 2406565	NM_030953.4(TIGD6):c.716A>G (p.Lys239Arg)	TIGD6 (K239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383416	NM_030953.4(TIGD6):c.118A>C (p.Thr40Pro)	TIGD6 (T40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378121	NM_030953.4(TIGD6):c.1516A>C (p.Thr506Pro)	TIGD6 (T506P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371195	NM_030953.4(TIGD6):c.626G>A (p.Arg209Gln)	TIGD6 (R209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368450	NM_030953.4(TIGD6):c.25C>T (p.Arg9Cys)	TIGD6 (R9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367086	NM_030953.4(TIGD6):c.176G>A (p.Arg59Gln)	TIGD6 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354556	NM_030953.4(TIGD6):c.143T>C (p.Leu48Ser)	TIGD6 (L48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351076	NM_030953.4(TIGD6):c.918C>G (p.Asn306Lys)	TIGD6 (N306K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333607	NM_030953.4(TIGD6):c.1249T>C (p.Phe417Leu)	TIGD6 (F417L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330650	NM_030953.4(TIGD6):c.329A>G (p.Asn110Ser)	TIGD6 (N110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318590	NM_030953.4(TIGD6):c.601A>G (p.Arg201Gly)	TIGD6 (R201G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305832	NM_030953.4(TIGD6):c.608G>A (p.Gly203Asp)	TIGD6 (G203D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279535	NM_030953.4(TIGD6):c.1037A>T (p.Glu346Val)	TIGD6 (R346W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229629	NM_030953.4(TIGD6):c.954A>G (p.Ile318Met)	TIGD6 (I318M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225776	NM_030953.4(TIGD6):c.1139T>C (p.Met380Thr)	TIGD6 (M380T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223950	NM_030953.4(TIGD6):c.1219A>G (p.Ile407Val)	TIGD6 (I407V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1273227	NM_030953.4(TIGD6):c.1032del (p.Glu345fs)	TIGD6 (E345fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 814751	GRCh37/hg19 5q32(chr5:148953230-149414017)x3	ARHGEF37, MIR378A +5 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	MBLAC2, MCC +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49