14644[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	ABCC11, ABCC12 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 161712	NM_018092.5(NETO2):c.1532G>C (p.Arg511Thr)	NETO2 (R511T +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2537236	NM_018092.5(NETO2):c.1503G>A (p.Met501Ile)	NETO2 (M494I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252398	NM_018092.5(NETO2):c.1496G>A (p.Arg499Gln)	NETO2 (R499Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299328	NM_018092.5(NETO2):c.1492G>A (p.Asp498Asn)	NETO2 (D491N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768776	NM_018092.5(NETO2):c.1366T>A (p.Ser456Thr)	NETO2 (S449T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2476283	NM_018092.5(NETO2):c.1349G>A (p.Ser450Asn)	NETO2 (S443N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269759	NM_018092.5(NETO2):c.1337G>A (p.Ser446Asn)	NETO2 (S446N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617181	NM_018092.5(NETO2):c.1316A>G (p.His439Arg)	NETO2 (H432R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404369	NM_018092.5(NETO2):c.1279C>T (p.Arg427Cys)	NETO2 (R420C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267386	NM_018092.5(NETO2):c.1250A>G (p.Glu417Gly)	NETO2 (E410G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313843	NM_018092.5(NETO2):c.1202T>C (p.Phe401Ser)	NETO2 (F394S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387492	NM_018092.5(NETO2):c.1157A>G (p.Lys386Arg)	NETO2 (K379R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194233	NM_018092.5(NETO2):c.1147G>A (p.Ala383Thr)	NETO2 (A383T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194231	NM_018092.5(NETO2):c.1135G>A (p.Ala379Thr)	NETO2 (A372T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194227	NM_018092.5(NETO2):c.1103T>C (p.Val368Ala)	NETO2 (V361A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456438	NM_018092.5(NETO2):c.1053T>G (p.Ile351Met)	NETO2 (I344M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316751	NM_018092.5(NETO2):c.985A>T (p.Asn329Tyr)	NETO2 (N322Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307453	NM_018092.5(NETO2):c.914A>T (p.His305Leu)	NETO2 (H305L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194292	NM_018092.5(NETO2):c.860T>C (p.Met287Thr)	NETO2 (M287T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483736	NM_018092.5(NETO2):c.857G>A (p.Arg286Gln)	NETO2 (R286Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527224	NM_018092.5(NETO2):c.842G>A (p.Arg281Gln)	NETO2 (R281Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359987	NM_018092.5(NETO2):c.746A>G (p.Glu249Gly)	NETO2 (E242G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213059	NM_018092.5(NETO2):c.695A>G (p.Asn232Ser)	NETO2 (N225S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537275	NM_018092.5(NETO2):c.694A>G (p.Asn232Asp)	NETO2 (N225D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545474	NM_018092.5(NETO2):c.647A>T (p.Lys216Ile)	NETO2 (K216I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228245	NM_018092.5(NETO2):c.613G>A (p.Val205Ile)	NETO2 (V205I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601267	NM_018092.5(NETO2):c.389T>G (p.Ile130Ser)	NETO2 (I130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528779	NM_018092.5(NETO2):c.355G>A (p.Asp119Asn)	NETO2 (D119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194260	NM_018092.5(NETO2):c.286C>A (p.Pro96Thr)	NETO2 (P96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483268	NM_018092.5(NETO2):c.274T>C (p.Tyr92His)	NETO2 (Y92H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422825	NC_000016.9:g.(?_46694384)_(48258199_?)dup	ABCC11, ABCC12 +9 more	Duplication	Glycogen storage disease IXb	GUncertain significance
Select item 1809482	GRCh37/hg19 16q12.1(chr16:47046015-47249587)x3	ITFG1, NETO2	Copy number gain	not provided	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 980677	GRCh37/hg19 16q11.2-12.1(chr16:46503968-47312075)x3	ITFG1, SHCBP1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442863	GRCh37/hg19 16q11.2-12.1(chr16:46737110-51838691)x1	ABCC11, ABCC12 +23 more	Copy number loss	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221520	GRCh37/hg19 16q11.2-12.1(chr16:46615804-47345238)x1	C16orf87, DNAJA2 +7 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 51