BNC2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134663	NM_017637.6(BNC2):c.3293T>C (p.Val1098Ala)	BNC2 (V1003A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1963561	NM_017637.6(BNC2):c.3095A>G (p.Asn1032Ser)	BNC2 (N937S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3134661	NM_017637.6(BNC2):c.3092G>C (p.Ser1031Thr)	BNC2 (S1031T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2973134	NM_017637.6(BNC2):c.3089G>A (p.Gly1030Glu)	BNC2 (G1030E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2600890	NM_017637.6(BNC2):c.3073T>C (p.Phe1025Leu)	BNC2 (F1025L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1940590	NM_017637.6(BNC2):c.3058T>G (p.Ser1020Ala)	BNC2 (S1020A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2254734	NM_017637.6(BNC2):c.3026C>T (p.Pro1009Leu)	BNC2 (P1009L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2053258	NM_017637.6(BNC2):c.3024C>T (p.Ala1008=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2525127	NM_017637.6(BNC2):c.3022G>A (p.Ala1008Thr)	BNC2 (A1008T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2177760	NM_017637.6(BNC2):c.3019G>A (p.Glu1007Lys)	BNC2 (E1007K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2077000	NM_017637.6(BNC2):c.3017C>T (p.Ala1006Val)	BNC2 (A1006V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1973816	NM_017637.6(BNC2):c.3006G>A (p.Ser1002=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2190833	NM_017637.6(BNC2):c.3005C>T (p.Ser1002Leu)	BNC2 (S1002L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3134660	NM_017637.6(BNC2):c.2977A>G (p.Ile993Val)	BNC2 (I898V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2069520	NM_017637.6(BNC2):c.2973T>C (p.Asp991=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1548286	NM_017637.6(BNC2):c.2952C>T (p.Ser984=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 120240	NM_017637.6(BNC2):c.2920A>G (p.Ile974Val)	BNC2 (I974V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2907637	NM_017637.6(BNC2):c.2802C>T (p.Asp934=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 120239	NM_017637.6(BNC2):c.2789A>G (p.Asp930Gly)	BNC2 (D930G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2354291	NM_017637.6(BNC2):c.2788G>A (p.Asp930Asn)	BNC2 (D930N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1957670	NM_017637.6(BNC2):c.2768C>G (p.Ala923Gly)	BNC2 (A828G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 120238	NM_017637.6(BNC2):c.2768C>T (p.Ala923Val)	BNC2 (A923V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2592561	NM_017637.6(BNC2):c.2761T>C (p.Tyr921His)	BNC2 (Y826H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369614	NM_017637.6(BNC2):c.2760A>G (p.Ile920Met)	BNC2 (I825M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 120237	NM_017637.6(BNC2):c.2739C>T (p.Arg913=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2366483	NM_017637.6(BNC2):c.2738G>A (p.Arg913His)	BNC2 (R818H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 708872	NM_017637.6(BNC2):c.2733C>A (p.Asp911Glu)	BNC2 (D911E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2824496	NM_017637.6(BNC2):c.2724T>C (p.Leu908=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3134659	NM_017637.6(BNC2):c.2723T>G (p.Leu908Arg)	BNC2 (L813R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595431	NM_017637.6(BNC2):c.2711C>T (p.Ser904Leu)	BNC2 (S809L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2990160	NM_017637.6(BNC2):c.2699G>T (p.Gly900Val)	BNC2 (G805V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3015510	NM_017637.6(BNC2):c.2685A>G (p.Glu895=)	BNC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2797994	NM_017637.6(BNC2):c.2676G>T (p.Leu892Phe)	BNC2 (L797F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2239965	NM_017637.6(BNC2):c.2666G>A (p.Arg889His)	BNC2 (R794H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475997	NM_017637.6(BNC2):c.2665C>T (p.Arg889Cys)	BNC2 (R889C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 599348	NM_017637.6(BNC2):c.2663A>G (p.His888Arg)	BNC2 (H888R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Lower urinary tract obstruction, congenital +1 more	GPathogenic
Select item 1600973	NM_017637.6(BNC2):c.2640-20dup	BNC2	Duplication (intron variant)	not provided	GBenign
Select item 2970052	NM_017637.6(BNC2):c.2640-20del	BNC2	Deletion (intron variant)	not provided	GBenign
Select item 624566	NM_017637.6(BNC2):c.2636+499C>T	BNC2 (R853*)	Single nucleotide variant (nonsense +1 more)	Lower Urinary Tract Obstruction +1 more	GPathogenic
Select item 3049679	NM_017637.6(BNC2):c.2636+496C>T	BNC2 (H852Y)	Single nucleotide variant (missense variant +1 more)	BNC2-related disorder	GLikely benign
Select item 2998057	NM_017637.6(BNC2):c.1705G>A (p.Val569Ile)	BNC2 (V527I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932222	NM_017637.6(BNC2):c.1661T>A (p.Leu554His)	BNC2 (L459H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778378	NM_017637.6(BNC2):c.1648T>G (p.Leu550Val)	BNC2 (L508V +2 more)	Single nucleotide variant (missense variant)	Lower urinary tract obstruction, congenital +1 more	GBenign/Likely benign
Select item 2419689	NM_017637.6(BNC2):c.1637T>C (p.Leu546Pro)	BNC2 (L451P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2378503	NM_017637.6(BNC2):c.1619G>A (p.Gly540Asp)	BNC2 (G498D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2054265	NM_017637.6(BNC2):c.1607G>A (p.Arg536Gln)	BNC2 (R536Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2324561	NM_017637.6(BNC2):c.1576A>G (p.Lys526Glu)	BNC2 (K484E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2972308	NM_017637.6(BNC2):c.1571G>C (p.Ser524Thr)	BNC2 (S482T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 120229	NM_017637.6(BNC2):c.1545A>G (p.Ser515=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708491	NM_017637.6(BNC2):c.1542C>T (p.Thr514=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2970127	NM_017637.6(BNC2):c.1535G>A (p.Arg512Gln)	BNC2 (R470Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995957	NM_017637.6(BNC2):c.1440T>C (p.Phe480=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968286	NM_017637.6(BNC2):c.1392C>T (p.His464=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3261271	NM_017637.6(BNC2):c.1289G>T (p.Arg430Ile)	BNC2 (R430I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1598812	NM_017637.6(BNC2):c.1287G>A (p.Met429Ile)	BNC2 (M334I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2986477	NM_017637.6(BNC2):c.1274G>A (p.Arg425Gln)	BNC2 (R425Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949950	NM_017637.6(BNC2):c.1272C>G (p.Phe424Leu)	BNC2 (F382L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 120228	NM_017637.6(BNC2):c.1240C>G (p.Leu414Val)	BNC2 (L414V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 120227	NM_017637.6(BNC2):c.1239T>C (p.Asp413=)	BNC2	Single nucleotide variant (synonymous variant)	Hypotension	Gnot provided
Select item 2340300	NM_017637.6(BNC2):c.1186A>G (p.Lys396Glu)	BNC2 (K354E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2055710	NM_017637.6(BNC2):c.1157C>T (p.Ala386Val)	BNC2 (A344V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175093	NM_017637.6(BNC2):c.1144C>G (p.Pro382Ala)	BNC2 (P382A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3134652	NM_017637.6(BNC2):c.1108G>A (p.Glu370Lys)	BNC2 (E370K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726519	NM_017637.6(BNC2):c.1101C>T (p.Ser367=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3261275	NM_017637.6(BNC2):c.1076C>G (p.Thr359Ser)	BNC2 (T264S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238312	NM_017637.6(BNC2):c.1063C>A (p.Pro355Thr)	BNC2 (P313T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032938	NM_017637.6(BNC2):c.1046G>A (p.Gly349Glu)	BNC2 (G254E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2130624	NM_017637.6(BNC2):c.1024G>A (p.Gly342Arg)	BNC2 (G300R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065806	NM_017637.6(BNC2):c.1010G>C (p.Gly337Ala)	BNC2 (G242A +2 more)	Single nucleotide variant (missense variant)	Lower urinary tract obstruction, congenital	GUncertain significance
Select item 120226	NM_017637.6(BNC2):c.1002A>G (p.Pro334=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604831	NM_017637.6(BNC2):c.988C>A (p.Pro330Thr)	BNC2 (P330T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613588	NM_017637.6(BNC2):c.983T>C (p.Ile328Thr)	BNC2 (I286T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630663	NM_017637.6(BNC2):c.982A>G (p.Ile328Val)	BNC2 (I233V +2 more)	Single nucleotide variant (missense variant)	BNC2-related disorder	GUncertain significance
Select item 3261276	NM_017637.6(BNC2):c.943A>T (p.Ile315Phe)	BNC2 (I220F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3261274	NM_017637.6(BNC2):c.941A>G (p.Asn314Ser)	BNC2 (N314S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 120245	NM_017637.6(BNC2):c.936C>T (p.Phe312=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 120244	NM_017637.6(BNC2):c.916C>G (p.Pro306Ala)	BNC2 (P306A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2494181	NM_017637.6(BNC2):c.830A>C (p.Lys277Thr)	BNC2 (K182T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472453	NM_017637.6(BNC2):c.811G>A (p.Val271Met)	BNC2 (V176M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2976845	NM_017637.6(BNC2):c.720G>A (p.Glu240=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629180	NM_017637.6(BNC2):c.696C>G (p.Arg232=)	BNC2	Single nucleotide variant (synonymous variant)	BNC2-related disorder	GUncertain significance
Select item 3022622	NM_017637.6(BNC2):c.694C>T (p.Arg232Cys)	BNC2 (R137C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3261267	NM_017637.6(BNC2):c.674C>T (p.Ala225Val)	BNC2 (A225V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678398	NM_017637.6(BNC2):c.669+24879A>G	BNC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1630776	NM_017637.6(BNC2):c.669+19C>T	BNC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3050605	NM_017637.6(BNC2):c.669+10G>A	BNC2	Single nucleotide variant (intron variant)	BNC2-related disorder	GLikely benign
Select item 2767660	NM_017637.6(BNC2):c.663C>T (p.Ile221=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2890164	NM_017637.6(BNC2):c.627T>C (p.Leu209=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163142	NM_017637.6(BNC2):c.591G>A (p.Leu197=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873605	NM_017637.6(BNC2):c.582C>T (p.Phe194=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919754	NM_017637.6(BNC2):c.582C>G (p.Phe194Leu)	BNC2 (F194L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3261269	NM_017637.6(BNC2):c.580T>A (p.Phe194Ile)	BNC2 (F194I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2745173	NM_017637.6(BNC2):c.538C>G (p.Gln180Glu)	BNC2 (Q180E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3134664	NM_017637.6(BNC2):c.530A>G (p.Tyr177Cys)	BNC2 (Y135C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 120242	NM_017637.6(BNC2):c.519C>T (p.Ser173=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2268609	NM_017637.6(BNC2):c.502G>A (p.Val168Met)	BNC2 (V126M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 120241	NM_017637.6(BNC2):c.501C>T (p.Val167=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070316	NM_017637.6(BNC2):c.452C>T (p.Thr151Met)	BNC2 (T151M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2966597	NM_017637.6(BNC2):c.360A>G (p.Thr120=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678399	NM_017637.6(BNC2):c.331-28714G>A	BNC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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