ClinVar for Gene (Select 8875) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332132	NM_004665.6(VNN2):c.1050A>T (p.Glu350Asp)	VNN2 (E350D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3332131	NM_004665.6(VNN2):c.7A>G (p.Thr3Ala)	VNN2 (T3A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3332130	NM_004665.6(VNN2):c.910G>A (p.Val304Met)	VNN2 (V251M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3188727	NM_004665.6(VNN2):c.446G>A (p.Arg149His)	VNN2 (R149H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188726	NM_004665.6(VNN2):c.168G>T (p.Glu56Asp)	VNN2 (E3D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188725	NM_004665.6(VNN2):c.1250G>A (p.Arg417Gln)	LOC126859794, VNN2 (R364Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3188724	NM_004665.6(VNN2):c.1189G>A (p.Glu397Lys)	VNN2 (E344K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188723	NM_004665.6(VNN2):c.1165G>A (p.Gly389Arg)	VNN2 (G336R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188722	NM_004665.6(VNN2):c.1118T>A (p.Met373Lys)	VNN2 (M320K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062914	GRCh37/hg19 6q23.2(chr6:132926526-133319409)x3	RPS12, SLC18B1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062912	GRCh37/hg19 6q23.2(chr6:132951409-133081430)x3	TAAR1, VNN1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2684456	GRCh37/hg19 6q23.2(chr6:132926527-133319409)x3	RPS12, SLC18B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2656918	NM_004665.6(VNN2):c.615G>T (p.Arg205Ser)	VNN2 (R152S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2613267	NM_004665.6(VNN2):c.191C>T (p.Ala64Val)	VNN2 (A64V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597155	NM_004665.6(VNN2):c.629C>T (p.Thr210Met)	VNN2 (T210M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570008	NM_004665.6(VNN2):c.856A>C (p.Lys286Gln)	VNN2 (K233Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569306	NM_004665.6(VNN2):c.1147G>A (p.Val383Ile)	VNN2 (V383I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553958	NM_004665.6(VNN2):c.1477T>C (p.Cys493Arg)	VNN2 (C493R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546018	NM_004665.6(VNN2):c.1543C>A (p.Gln515Lys)	VNN2 (Q294K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530913	NM_004665.6(VNN2):c.1465C>G (p.Leu489Val)	VNN2 (L268V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460102	NM_004665.6(VNN2):c.1016G>T (p.Gly339Val)	VNN2 (G286V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407032	NM_004665.6(VNN2):c.67C>G (p.Gln23Glu)	VNN2 (Q23E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400596	NM_004665.6(VNN2):c.439A>G (p.Asn147Asp)	VNN2 (N147D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393530	NM_004665.6(VNN2):c.221G>A (p.Arg74Gln)	VNN2 (R74Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2369819	NM_004665.6(VNN2):c.157C>G (p.Leu53Val)	VNN2 (L53V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337689	NM_004665.6(VNN2):c.1234T>G (p.Leu412Val)	LOC126859794, VNN2 (L359V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328837	NM_004665.6(VNN2):c.385G>A (p.Ala129Thr)	VNN2 (A129T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305954	NM_004665.6(VNN2):c.1117A>G (p.Met373Val)	VNN2 (M320V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303312	NM_004665.6(VNN2):c.1544A>C (p.Gln515Pro)	VNN2 (Q294P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295838	NM_004665.6(VNN2):c.721G>T (p.Val241Phe)	VNN2 (V241F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280106	NM_004665.6(VNN2):c.48A>G (p.Ile16Met)	VNN2 (I16M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2261581	NM_004665.6(VNN2):c.1552G>A (p.Val518Ile)	VNN2 (V297I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242984	NM_004665.6(VNN2):c.457T>C (p.Cys153Arg)	VNN2 (C100R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239813	NM_004665.6(VNN2):c.1253C>A (p.Pro418Gln)	LOC126859794, VNN2 (P365Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232932	NM_004665.6(VNN2):c.1480G>A (p.Gly494Arg)	VNN2 (G441R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210593	NM_004665.6(VNN2):c.1388G>A (p.Arg463His)	VNN2 (R410H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 1340562	GRCh37/hg19 6q23.2(chr6:132875123-133509642)x3	RPS12, SLC18B1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 784097	NM_004665.6(VNN2):c.1178G>A (p.Arg393Gln)	VNN2 (R340Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 778252	NM_004665.6(VNN2):c.50C>A (p.Thr17Asn)	VNN2 (T17N)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 721182	NM_004665.6(VNN2):c.137C>T (p.Ser46Phe)	VNN2 (S46F)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 708437	NM_004665.6(VNN2):c.266C>T (p.Thr89Ile)	VNN2 (T36I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688723	GRCh37/hg19 6q23.2(chr6:132926920-133314722)x3	RPS12, SLC18B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 219320	NM_004665.6(VNN2):c.450C>A (p.Asp150Glu)	VNN2 (D150E +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 59545	GRCh38/hg38 6q23.2(chr6:132455272-133141153)x3	LINC00326, LOC123864071 +34 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Germline classification

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Links from Gene

Items: 56