30765[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 2246518	NM_015028.4(TNIK):c.4058A>G (p.Asn1353Ser)	TNIK (N1290S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335546	NM_015028.4(TNIK):c.3843A>G (p.Glu1281=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737750	NM_015028.4(TNIK):c.3834A>G (p.Gln1278=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633049	NM_015028.4(TNIK):c.3809G>A (p.Arg1270Gln)	TNIK (R1178Q +7 more)	Single nucleotide variant (missense variant)	TNIK-related disorder	GUncertain significance
Select item 2267085	NM_015028.4(TNIK):c.3794T>C (p.Val1265Ala)	TNIK (V1181A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 377187	NM_015028.4(TNIK):c.3707G>A (p.Gly1236Asp)	TNIK (G1144D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747587	NM_015028.4(TNIK):c.3525G>A (p.Pro1175=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769283	NM_015028.4(TNIK):c.3449-7A>T	TNIK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2512280	NM_015028.4(TNIK):c.3428G>A (p.Gly1143Asp)	TNIK (G1106D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747130	NM_015028.4(TNIK):c.3280C>T (p.Leu1094=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734166	NM_015028.4(TNIK):c.3225G>A (p.Gly1075=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783409	NM_015028.4(TNIK):c.3012C>T (p.Ser1004=)	TNIK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2496285	NM_015028.4(TNIK):c.2996C>T (p.Ala999Val)	TNIK (A936V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098861	NM_015028.4(TNIK):c.2995G>A (p.Ala999Thr)	TNIK (A907T +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 54 +1 more	GBenign
Select item 737099	NM_015028.4(TNIK):c.2994C>T (p.Ala998=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338491	NM_015028.4(TNIK):c.2992G>A (p.Ala998Thr)	TNIK (A906T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258780	NM_015028.4(TNIK):c.2973A>C (p.Glu991Asp)	TNIK (E936D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498941	NM_015028.4(TNIK):c.2952G>A (p.Thr984=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3327556	NM_015028.4(TNIK):c.2951C>A (p.Thr984Lys)	TNIK (T892K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1029340	NM_015028.4(TNIK):c.2869A>G (p.Met957Val)	TNIK (M928V +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 54	GUncertain significance
Select item 721291	NM_015028.4(TNIK):c.2772T>A (p.Ala924=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538715	NM_015028.4(TNIK):c.2762A>G (p.Asn921Ser)	TNIK (N829S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615477	NM_015028.4(TNIK):c.2755G>C (p.Asp919His)	TNIK (D890H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180358	NM_015028.4(TNIK):c.2741G>A (p.Arg914Gln)	TNIK (R830Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341778	NM_015028.4(TNIK):c.2737A>C (p.Lys913Gln)	TNIK (K821Q +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 54	GUncertain significance
Select item 1031855	NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu)	TNIK (G818E +7 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 54	GUncertain significance
Select item 1031854	NM_015028.4(TNIK):c.2724G>T (p.Thr908=)	TNIK	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 54	GUncertain significance
Select item 750611	NM_015028.4(TNIK):c.2724G>A (p.Thr908=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709853	NM_015028.4(TNIK):c.2720A>C (p.Glu907Ala)	TNIK (E852A +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3180357	NM_015028.4(TNIK):c.2711T>G (p.Met904Arg)	TNIK (M812R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098862	NM_015028.4(TNIK):c.2682C>T (p.Ser894=)	TNIK	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 54 +1 more	GBenign
Select item 3180356	NM_015028.4(TNIK):c.2669C>A (p.Ala890Glu)	TNIK (A806E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225207	NM_015028.4(TNIK):c.2669C>T (p.Ala890Val)	TNIK (A806V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542472	NM_015028.4(TNIK):c.2647C>T (p.His883Tyr)	TNIK (H820Y +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251856	NM_015028.4(TNIK):c.2641G>A (p.Gly881Arg)	TNIK (G789R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347062	NM_015028.4(TNIK):c.2575G>A (p.Asp859Asn)	TNIK (D859N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603324	NM_015028.4(TNIK):c.2574C>G (p.Ser858Arg)	TNIK (S774R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747501	NM_015028.4(TNIK):c.2559G>A (p.Gly853=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2309226	NM_015028.4(TNIK):c.2551C>T (p.His851Tyr)	TNIK (H814Y +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180354	NM_015028.4(TNIK):c.2524G>C (p.Glu842Gln)	TNIK (E750Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180353	NM_015028.4(TNIK):c.2520G>C (p.Glu840Asp)	TNIK (E785D +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260423	NM_015028.4(TNIK):c.2479A>G (p.Thr827Ala)	TNIK (T735A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240676	NM_015028.4(TNIK):c.2462G>A (p.Arg821His)	TNIK (R729H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260422	NM_015028.4(TNIK):c.2456C>A (p.Thr819Lys)	TNIK (T727K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180351	NM_015028.4(TNIK):c.2416G>A (p.Ala806Thr)	TNIK (A769T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522924	NM_015028.4(TNIK):c.2365C>T (p.Arg789Trp)	TNIK (R789W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180349	NM_015028.4(TNIK):c.2344G>C (p.Glu782Gln)	TNIK (E698Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342233	NM_015028.4(TNIK):c.2331G>C (p.Ala777=)	TNIK	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 54 +1 more	GBenign
Select item 1342234	NM_015028.4(TNIK):c.2316C>T (p.Leu772=)	TNIK	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 54 +1 more	GBenign
Select item 2246673	NM_015028.4(TNIK):c.2291G>A (p.Ser764Asn)	TNIK (S709N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051400	NM_015028.4(TNIK):c.2285-8T>C	TNIK	Single nucleotide variant (intron variant)	TNIK-related disorder	GLikely benign
Select item 2445959	NM_015028.4(TNIK):c.2215C>T (p.Gln739Ter)	TNIK (Q655* +3 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2381862	NM_015028.4(TNIK):c.2135G>A (p.Arg712Gln)	TNIK (R683Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521315	NM_015028.4(TNIK):c.2099G>A (p.Gly700Glu)	TNIK (G616E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740304	NM_015028.4(TNIK):c.2025A>G (p.Arg675=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3327554	NM_015028.4(TNIK):c.1973G>A (p.Arg658Gln)	TNIK (R574Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461646	NM_015028.4(TNIK):c.1957A>T (p.Ile653Phe)	TNIK (I624F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293541	NM_015028.4(TNIK):c.1907C>T (p.Pro636Leu)	TNIK (P552L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034548	NM_015028.4(TNIK):c.1896C>T (p.Arg632=)	TNIK	Single nucleotide variant (synonymous variant)	TNIK-related disorder	GLikely benign
Select item 3025256	NM_015028.4(TNIK):c.1881C>T (p.Asn627=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654275	NM_015028.4(TNIK):c.1818C>T (p.Thr606=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3327552	NM_015028.4(TNIK):c.1748C>T (p.Pro583Leu)	TNIK (P583L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327557	NM_015028.4(TNIK):c.1744C>G (p.Pro582Ala)	TNIK (P582A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051398	NM_015028.4(TNIK):c.1722T>C (p.Ser574=)	TNIK	Single nucleotide variant (synonymous variant +1 more)	TNIK-related disorder	GLikely benign
Select item 2690243	NM_015028.4(TNIK):c.1633C>T (p.Arg545Trp)	TNIK (R516W +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 54	GUncertain significance
Select item 3180348	NM_015028.4(TNIK):c.1619G>A (p.Arg540Gln)	TNIK (R511Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056765	NM_015028.4(TNIK):c.1609-14_1609-10dup	TNIK	Duplication (intron variant)	TNIK-related disorder	GBenign
Select item 3044625	NM_015028.4(TNIK):c.1609-17_1609-10dup	TNIK	Duplication (intron variant)	TNIK-related disorder	GLikely benign
Select item 789939	NM_015028.4(TNIK):c.1609-9G>T	TNIK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3034468	NM_015028.4(TNIK):c.1609-14_1609-10del	TNIK	Deletion (intron variant)	TNIK-related disorder	GLikely benign
Select item 2211895	NM_015028.4(TNIK):c.1558C>G (p.His520Asp)	TNIK (H520D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790263	NM_015028.4(TNIK):c.1533G>A (p.Arg511=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2524783	NM_015028.4(TNIK):c.1442A>G (p.Glu481Gly)	TNIK (E452G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1229404	NM_015028.4(TNIK):c.1419+19A>G	TNIK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 760206	NM_015028.4(TNIK):c.1396C>T (p.Leu466=)	TNIK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1690467	NM_015028.4(TNIK):c.1333-5T>C	TNIK	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 743996	NM_015028.4(TNIK):c.1312A>C (p.Arg438=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654276	NM_015028.4(TNIK):c.1272C>T (p.Arg424=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3327551	NM_015028.4(TNIK):c.1211G>A (p.Arg404Gln)	LOC123230410, TNIK (R404Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210555	NM_015028.4(TNIK):c.1203G>C (p.Gln401His)	LOC123230410, TNIK (Q401H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741952	NM_015028.4(TNIK):c.1167C>T (p.Ala389=)	TNIK, LOC123230410	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3180347	NM_015028.4(TNIK):c.1117C>G (p.Leu373Val)	LOC123230410, TNIK (L373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569214	NM_015028.4(TNIK):c.1055G>T (p.Arg352Met)	LOC123230410, TNIK (R352M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180346	NM_015028.4(TNIK):c.1021A>G (p.Ile341Val)	LOC123230410, TNIK (I341V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 751002	NM_015028.4(TNIK):c.1005A>G (p.Ser335=)	TNIK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726226	NM_015028.4(TNIK):c.949+8G>A	TNIK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3050630	NM_015028.4(TNIK):c.949+3T>G	TNIK	Single nucleotide variant (intron variant)	TNIK-related disorder	GLikely benign
Select item 2508229	NM_015028.4(TNIK):c.866T>C (p.Ile289Thr)	TNIK (I289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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