ClinVar for Gene (Select 254042) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294398	NM_199227.3(METAP1D):c.173T>C (p.Val58Ala)	METAP1D (V58A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3294397	NM_199227.3(METAP1D):c.667G>C (p.Ala223Pro)	METAP1D (A105P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294396	NM_199227.3(METAP1D):c.188C>T (p.Pro63Leu)	METAP1D (P63L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3294395	NM_199227.3(METAP1D):c.569C>A (p.Thr190Asn)	METAP1D (T190N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294394	NM_199227.3(METAP1D):c.932C>T (p.Ser311Leu)	METAP1D (S311L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125408	NM_199227.3(METAP1D):c.990A>T (p.Lys330Asn)	METAP1D (K330N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125407	NM_199227.3(METAP1D):c.931T>G (p.Ser311Ala)	METAP1D (S193A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125406	NM_199227.3(METAP1D):c.712A>G (p.Thr238Ala)	METAP1D (T120A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125405	NM_199227.3(METAP1D):c.500G>A (p.Arg167Gln)	METAP1D (R49Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125403	NM_199227.3(METAP1D):c.217T>A (p.Tyr73Asn)	METAP1D (Y73N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3125402	NM_199227.3(METAP1D):c.151A>G (p.Ser51Gly)	METAP1D (S51G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3125401	NM_199227.3(METAP1D):c.140A>C (p.Asp47Ala)	METAP1D (D47A)	Single nucleotide variant (5 prime UTR variant +2 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 2620093	NM_199227.3(METAP1D):c.293A>G (p.His98Arg)	METAP1D (H98R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2612558	NM_199227.3(METAP1D):c.989A>C (p.Lys330Thr)	METAP1D (K212T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597718	NM_199227.3(METAP1D):c.449C>T (p.Ser150Phe)	METAP1D (S32F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545870	NM_199227.3(METAP1D):c.676C>T (p.Pro226Ser)	METAP1D (P226S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533471	NM_199227.3(METAP1D):c.472G>A (p.Val158Met)	METAP1D (V158M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459270	NM_199227.3(METAP1D):c.128G>A (p.Arg43Gln)	METAP1D (R43Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2457895	NM_199227.3(METAP1D):c.413A>G (p.Tyr138Cys)	METAP1D (Y20C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	GUncertain significance
Select item 2403842	NM_199227.3(METAP1D):c.961A>C (p.Thr321Pro)	METAP1D (T203P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359618	NM_199227.3(METAP1D):c.421C>T (p.Pro141Ser)	METAP1D (P141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359406	NM_199227.3(METAP1D):c.313C>T (p.Arg105Cys)	METAP1D (R105C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2333036	NM_199227.3(METAP1D):c.482A>G (p.His161Arg)	METAP1D (H161R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313051	NM_199227.3(METAP1D):c.23A>G (p.His8Arg)	METAP1D (H8R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2290277	NM_199227.3(METAP1D):c.744T>A (p.His248Gln)	METAP1D (H130Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219402	NM_199227.3(METAP1D):c.224C>T (p.Thr75Met)	METAP1D (T75M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	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)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger 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 814343	GRCh37/hg19 2q31.1(chr2:172808946-173003710)x3	DLX1, HAT1 +2 more	Copy number gain	not provided	GUncertain significance
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 685748	GRCh37/hg19 2q31.1(chr2:172610949-172900426)x3	HAT1, METAP1D +1 more	Copy number gain	not provided	GUncertain significance
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 559503	GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4	SLC25A12, DLX1 +5 more	Copy number gain	Isolated Pierre-Robin syndrome +3 more	GUncertain significance
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
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 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 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 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	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 58765	GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1	LOC129935084, LOC129935085 +54 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

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Links from Gene

Items: 51