25193[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 151155	GRCh38/hg38 2p25.1(chr2:8397352-9440634)x4	ASAP2, CPSF3 +49 more	Copy number gain	See cases	GUncertain significance
Select item 3293556	NM_138799.4(MBOAT2):c.1538C>T (p.Ser513Leu)	MBOAT2 (S513L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124098	NM_138799.4(MBOAT2):c.1517A>G (p.Asn506Ser)	MBOAT2 (N373S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2376854	NM_138799.4(MBOAT2):c.1402A>G (p.Thr468Ala)	MBOAT2 (T335A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555270	NM_138799.4(MBOAT2):c.1396A>G (p.Lys466Glu)	MBOAT2 (K377E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293555	NM_138799.4(MBOAT2):c.1382T>C (p.Leu461Ser)	MBOAT2 (L328S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401865	NM_138799.4(MBOAT2):c.1276A>G (p.Ile426Val)	MBOAT2 (I293V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124097	NM_138799.4(MBOAT2):c.1054G>C (p.Val352Leu)	MBOAT2 (V263L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209365	NM_138799.4(MBOAT2):c.1007T>A (p.Met336Lys)	MBOAT2 (M247K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488709	NM_138799.4(MBOAT2):c.995C>T (p.Thr332Ile)	MBOAT2 (T199I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359761	NM_138799.4(MBOAT2):c.947G>T (p.Arg316Leu)	MBOAT2 (R227L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124102	NM_138799.4(MBOAT2):c.946C>T (p.Arg316Cys)	MBOAT2 (R227C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124101	NM_138799.4(MBOAT2):c.820A>G (p.Ile274Val)	MBOAT2 (I185V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2476917	NM_138799.4(MBOAT2):c.814A>G (p.Thr272Ala)	MBOAT2 (T183A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219155	NM_138799.4(MBOAT2):c.811C>A (p.Pro271Thr)	MBOAT2 (P182T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124100	NM_138799.4(MBOAT2):c.743T>G (p.Leu248Trp)	MBOAT2 (L159W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235314	NM_138799.4(MBOAT2):c.674C>A (p.Thr225Lys)	MBOAT2 (T225K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607447	NM_138799.4(MBOAT2):c.673A>G (p.Thr225Ala)	MBOAT2 (T136A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2372724	NM_138799.4(MBOAT2):c.460C>T (p.Arg154Trp)	MBOAT2 (R21W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215577	NM_138799.4(MBOAT2):c.343G>A (p.Val115Ile)	MBOAT2 (V115I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2314338	NM_138799.4(MBOAT2):c.323G>T (p.Gly108Val)	MBOAT2 (G108V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245806	NM_138799.4(MBOAT2):c.128G>A (p.Arg43Gln)	MBOAT2 (R43Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2426589	NC_000002.11:g.(?_7968276)_(10192634_?)dup	ADAM17, ASAP2 +10 more	Duplication	not provided	GUncertain significance
Select item 2426587	NC_000002.11:g.(?_7968276)_(10192634_?)del	ADAM17, ASAP2 +10 more	Deletion	not provided	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
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 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	GUncertain significance
Select item 443791	GRCh37/hg19 2p25.1(chr2:8166517-9325026)x3	ID2, KIDINS220 +1 more	Copy number gain	See cases	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	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

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Items: 45