ClinVar for Gene (Select 55798) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3062974	GRCh37/hg19 7q32.1(chr7:127962834-128281256)x3	HILPDA, IMPDH1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2618275	NM_018396.3(METTL2B):c.1127G>C (p.Ser376Thr)	METTL2B (S376T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593366	NM_018396.3(METTL2B):c.218A>G (p.Asn73Ser)	METTL2B (N73S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541399	NM_018396.3(METTL2B):c.917G>A (p.Gly306Asp)	METTL2B (G306D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509605	NM_018396.3(METTL2B):c.449A>G (p.His150Arg)	METTL2B (H150R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496338	NM_018396.3(METTL2B):c.1042C>T (p.Arg348Cys)	METTL2B (R348C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494865	NM_018396.3(METTL2B):c.83C>T (p.Pro28Leu)	METTL2B (P28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491795	NM_018396.3(METTL2B):c.665T>C (p.Val222Ala)	METTL2B (V222A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409471	NM_018396.3(METTL2B):c.263G>A (p.Gly88Glu)	METTL2B (G88E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402800	NM_018396.3(METTL2B):c.847A>G (p.Lys283Glu)	METTL2B (K283E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378751	NM_018396.3(METTL2B):c.571G>A (p.Val191Met)	METTL2B (V191M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353244	NM_018396.3(METTL2B):c.883C>T (p.Arg295Cys)	METTL2B (R295C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343787	NM_018396.3(METTL2B):c.695G>A (p.Arg232Gln)	METTL2B (R232Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312299	NM_018396.3(METTL2B):c.840G>C (p.Arg280Ser)	METTL2B (R280S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259298	NM_018396.3(METTL2B):c.943G>A (p.Val315Met)	METTL2B (V315M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1340970	GRCh37/hg19 7q32.1(chr7:128024806-128373998)x3	GARIN1A, GARIN1B +3 more	Copy number gain	not provided	GUncertain significance
Select item 815033	GRCh37/hg19 7q32.1(chr7:128084932-128354937)x3	METTL2B, HILPDA +1 more	Copy number gain	not provided	GUncertain significance
Select item 815032	GRCh37/hg19 7q32.1(chr7:128038651-128369771)x3	HILPDA, GARIN1B +3 more	Copy number gain	not provided	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 768200	NM_018396.3(METTL2B):c.942T>C (p.Tyr314=)	METTL2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 686020	GRCh37/hg19 7q32.1(chr7:127999644-128465294)x3	CALU, CCDC136 +7 more	Copy number gain	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	LOC129999315, LOC129999316 +342 more	Copy number loss	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	AHCYL2, ATP6V1F +106 more	Copy number gain	See cases	GLikely benign
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999254, LOC129999255 +284 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 47