ClinVar for Gene (Select 27283) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326199	NM_014464.4(TINAG):c.1028A>G (p.Glu343Gly)	TINAG (E343G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326198	NM_014464.4(TINAG):c.296A>G (p.Lys99Arg)	TINAG (K99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177598	NM_014464.4(TINAG):c.988G>A (p.Gly330Arg)	TINAG (G330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177597	NM_014464.4(TINAG):c.965T>C (p.Met322Thr)	TINAG (M322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177596	NM_014464.4(TINAG):c.718T>C (p.Cys240Arg)	TINAG (C240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177595	NM_014464.4(TINAG):c.715A>C (p.Asn239His)	TINAG (N239H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177594	NM_014464.4(TINAG):c.682C>T (p.Pro228Ser)	TINAG (P228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177593	NM_014464.4(TINAG):c.622A>T (p.Thr208Ser)	TINAG (T208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177592	NM_014464.4(TINAG):c.325C>G (p.Pro109Ala)	TINAG (P109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177591	NM_014464.4(TINAG):c.1412C>T (p.Thr471Met)	TINAG (T471M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177590	NM_014464.4(TINAG):c.137G>C (p.Arg46Pro)	TINAG (R46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177589	NM_014464.4(TINAG):c.1355G>A (p.Arg452Gln)	TINAG (R452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177588	NM_014464.4(TINAG):c.1165A>T (p.Thr389Ser)	TINAG (T389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177586	NM_014464.4(TINAG):c.1117C>T (p.Pro373Ser)	TINAG (P373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177585	NM_014464.4(TINAG):c.1063T>C (p.Tyr355His)	TINAG (Y355H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690236	NM_014464.4(TINAG):c.1354C>T (p.Arg452Ter)	TINAG (R452*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 2604985	NM_014464.4(TINAG):c.712A>G (p.Lys238Glu)	TINAG (K238E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495632	NM_014464.4(TINAG):c.868G>A (p.Asp290Asn)	TINAG (D290N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494919	NM_014464.4(TINAG):c.1145A>G (p.Glu382Gly)	TINAG (E382G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485510	NM_014464.4(TINAG):c.953A>G (p.Asn318Ser)	TINAG (N318S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464998	NM_014464.4(TINAG):c.1226A>G (p.Gln409Arg)	TINAG (Q409R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2462933	NM_014464.4(TINAG):c.427T>A (p.Ser143Thr)	TINAG (S143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454497	NM_014464.4(TINAG):c.913G>A (p.Ala305Thr)	TINAG (A305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386832	NM_014464.4(TINAG):c.1360G>A (p.Val454Ile)	TINAG (V454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379273	NM_014464.4(TINAG):c.1222C>T (p.Leu408Phe)	TINAG (L408F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378843	NM_014464.4(TINAG):c.499G>A (p.Gly167Arg)	TINAG (G167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376776	NM_014464.4(TINAG):c.1294T>G (p.Trp432Gly)	TINAG (W432G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371678	NM_014464.4(TINAG):c.664G>A (p.Val222Ile)	TINAG (V222I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369385	NM_014464.4(TINAG):c.1012T>C (p.Cys338Arg)	TINAG (C338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355789	NM_014464.4(TINAG):c.1024G>A (p.Val342Ile)	TINAG (V342I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327867	NM_014464.4(TINAG):c.283T>C (p.Cys95Arg)	TINAG (C95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291212	NM_014464.4(TINAG):c.1082A>T (p.Glu361Val)	TINAG (E361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282645	NM_014464.4(TINAG):c.1372G>A (p.Asp458Asn)	TINAG (D458N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263051	NM_014464.4(TINAG):c.625G>A (p.Ala209Thr)	TINAG (A209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255402	NM_014464.4(TINAG):c.326C>T (p.Pro109Leu)	TINAG (P109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253862	NM_014464.4(TINAG):c.148G>C (p.Ala50Pro)	TINAG (A50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231934	NM_014464.4(TINAG):c.481A>G (p.Ile161Val)	TINAG (I161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221463	NM_014464.4(TINAG):c.871A>G (p.Arg291Gly)	TINAG (R291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220939	NM_014464.4(TINAG):c.975G>T (p.Arg325Ser)	TINAG (R325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 814814	GRCh37/hg19 6p12.1(chr6:53912334-54239084)x1	MLIP, TINAG	Copy number loss	not provided	GUncertain significance
Select item 709217	NM_014464.4(TINAG):c.33T>G (p.Ser11=)	TINAG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442759	GRCh37/hg19 6p12.1(chr6:53891139-54620129)x3	MLIP, TINAG	Copy number gain	See cases	GUncertain significance
Select item 395618	GRCh37/hg19 6p12.1(chr6:53661282-55147137)x3	LRRC1, MLIP +4 more	Copy number gain	See cases	GUncertain significance
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 146157	GRCh38/hg38 6p12.1(chr6:53931543-54584920)x3	LOC101927189, LOC126859696 +5 more	Copy number gain	See cases	GBenign
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 58429	GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1	BMP5, COL21A1 +18 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 54