ClinVar for Gene (Select 1160) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145268	NM_001099735.2(CKMT2):c.70A>G (p.Ser24Gly)	CKMT2, CKMT2-AS1 (S24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145267	NM_001099735.2(CKMT2):c.641C>T (p.Thr214Met)	CKMT2, CKMT2-AS1 (T214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145266	NM_001099735.2(CKMT2):c.571G>A (p.Val191Met)	CKMT2, CKMT2-AS1 (V191M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145265	NM_001099735.2(CKMT2):c.469G>A (p.Glu157Lys)	CKMT2, CKMT2-AS1 (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145264	NM_001099735.2(CKMT2):c.347A>G (p.Tyr116Cys)	CKMT2, CKMT2-AS1 (Y116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145263	NM_001099735.2(CKMT2):c.1232C>T (p.Pro411Leu)	CKMT2, CKMT2-AS1 (P411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597901	NM_001099735.2(CKMT2):c.514C>T (p.Arg172Cys)	CKMT2, CKMT2-AS1 (R172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559428	NM_001099735.2(CKMT2):c.1223A>T (p.Lys408Met)	CKMT2, CKMT2-AS1 (K408M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512356	NM_001099735.2(CKMT2):c.810G>C (p.Arg270Ser)	CKMT2, CKMT2-AS1 (R270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511642	NM_001099735.2(CKMT2):c.506G>A (p.Arg169His)	CKMT2, CKMT2-AS1 (R169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501739	NM_001099735.2(CKMT2):c.352-3C>T	CKMT2, CKMT2-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2477851	NM_001099735.2(CKMT2):c.291C>A (p.Asn97Lys)	CKMT2, CKMT2-AS1 (N97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476357	NM_001099735.2(CKMT2):c.34C>T (p.Arg12Cys)	CKMT2, CKMT2-AS1 (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475176	NM_001099735.2(CKMT2):c.544C>T (p.Arg182Trp)	CKMT2, CKMT2-AS1 (R182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473480	NM_001099735.2(CKMT2):c.172C>T (p.Arg58Cys)	CKMT2, CKMT2-AS1 (R58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463263	NM_001099735.2(CKMT2):c.658C>G (p.Arg220Gly)	CKMT2, CKMT2-AS1 (R220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406005	NM_001099735.2(CKMT2):c.317T>C (p.Val106Ala)	CKMT2, CKMT2-AS1 (V106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387010	NM_001099735.2(CKMT2):c.1208G>C (p.Arg403Thr)	CKMT2, CKMT2-AS1 (R403T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373346	NM_001099735.2(CKMT2):c.35G>A (p.Arg12His)	CKMT2, CKMT2-AS1 (R12H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370096	NM_001099735.2(CKMT2):c.1060C>T (p.Arg354Cys)	CKMT2, CKMT2-AS1 (R354C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346368	NM_001099735.2(CKMT2):c.41C>T (p.Ala14Val)	CKMT2, CKMT2-AS1 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333436	NM_001099735.2(CKMT2):c.1127T>C (p.Ile376Thr)	CKMT2, CKMT2-AS1 (I376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269099	NM_001099735.2(CKMT2):c.982G>A (p.Gly328Ser)	CKMT2, CKMT2-AS1 (G328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238790	NM_001099735.2(CKMT2):c.671A>G (p.Asp224Gly)	CKMT2, CKMT2-AS1 (D224G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814704	GRCh37/hg19 5q14.1(chr5:80323403-80577511)x3	RASGRF2, CKMT2	Copy number gain	not provided	GUncertain significance
Select item 814701	GRCh37/hg19 5q14.1(chr5:79528733-80545287)x3	SPZ1, MTRNR2L2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 687686	GRCh37/hg19 5q14.1(chr5:80501001-80600333)x3	CKMT2, RASGRF2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 684903	GRCh37/hg19 5q14.1(chr5:79664621-80767791)x3	RASGRF2, SSBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563081	GRCh37/hg19 5q14.1(chr5:79625636-80884586)x3	FAM151B, MSH3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +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 395343	GRCh37/hg19 5q14.1(chr5:79678575-80868550)x3	ACOT12, ANKRD34B +9 more	Copy number gain	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36