11841[HGNC] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60252	GRCh38/hg38 2q31.1(chr2:170101430-171243609)x1	ERICH2, ERICH2-DT +27 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 more	Copy number loss	See cases	GPathogenic
Select item 3326308	NM_012290.5(TLK1):c.2275C>G (p.Pro759Ala)	TLK1 (P759A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311996	NM_012290.5(TLK1):c.2216G>A (p.Arg739Lys)	TLK1 (R643K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326312	NM_012290.5(TLK1):c.1990T>A (p.Phe664Ile)	TLK1 (F568I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253734	NM_012290.5(TLK1):c.1442A>G (p.Tyr481Cys)	TLK1 (Y433C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578020	NM_012290.5(TLK1):c.1435C>G (p.Gln479Glu)	TLK1 (Q383E +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GUncertain significance
Select item 3177838	NM_012290.5(TLK1):c.1302G>C (p.Glu434Asp)	TLK1 (E386D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327509	NM_012290.5(TLK1):c.1279G>A (p.Val427Ile)	TLK1 (V331I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177844	NM_012290.5(TLK1):c.895C>T (p.Arg299Cys)	TLK1 (R251C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177843	NM_012290.5(TLK1):c.767A>G (p.Gln256Arg)	TLK1 (Q208R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177842	NM_012290.5(TLK1):c.752G>A (p.Arg251Gln)	TLK1 (R155Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177841	NM_012290.5(TLK1):c.623C>T (p.Ser208Phe)	TLK1 (S112F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177840	NM_012290.5(TLK1):c.482T>C (p.Val161Ala)	TLK1 (V113A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409950	NM_012290.5(TLK1):c.359C>G (p.Ser120Cys)	TLK1 (S120C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177839	NM_012290.5(TLK1):c.147G>A (p.Met49Ile)	TLK1 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326309	NM_012290.5(TLK1):c.128G>C (p.Arg43Thr)	TLK1 (R43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1683651	NM_012290.5(TLK1):c.112_113del (p.Thr38fs)	TLK1 (T38fs)	Microsatellite (frameshift variant +1 more)	See cases	GUncertain significance
Select item 3326310	NM_012290.5(TLK1):c.77G>C (p.Gly26Ala)	TLK1 (G26A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 38