ClinVar for Gene (Select 199786) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199994	NM_001321827.2(NIBAN3):c.880C>A (p.Pro294Thr)	NIBAN3 (P325T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199993	NM_001321827.2(NIBAN3):c.769C>T (p.Pro257Ser)	NIBAN3 (P288S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199992	NM_001321827.2(NIBAN3):c.748G>C (p.Ala250Pro)	NIBAN3 (A250P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199991	NM_001321827.2(NIBAN3):c.685G>C (p.Asp229His)	NIBAN3 (D229H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199990	NM_001321827.2(NIBAN3):c.508C>T (p.Arg170Trp)	NIBAN3 (R170W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199989	NM_001321827.2(NIBAN3):c.383G>T (p.Arg128Leu)	NIBAN3 (R159L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199988	NM_001321827.2(NIBAN3):c.-53C>T	NIBAN3 (T14M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199987	NM_001321827.2(NIBAN3):c.247C>T (p.Arg83Trp)	NIBAN3 (R114W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199986	NM_001321827.2(NIBAN3):c.232C>T (p.Arg78Trp)	NIBAN3 (R78W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199985	NM_001321827.2(NIBAN3):c.137G>A (p.Arg46Gln)	NIBAN3 (R77Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199984	NM_001321827.2(NIBAN3):c.*1618G>A	NIBAN3 (V409I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199983	NM_001321827.2(NIBAN3):c.*1579G>T	NIBAN3 (V670F +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199982	NM_001321827.2(NIBAN3):c.*1556A>G	NIBAN3 (H388R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3199981	NM_001321827.2(NIBAN3):c.*1555C>T	NIBAN3 (H662Y +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199980	NM_001321827.2(NIBAN3):c.*1543C>T	NIBAN3 (R627W +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199979	NM_001321827.2(NIBAN3):c.88C>T (p.Pro30Ser)	NIBAN3 (P30S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199978	NM_001321827.2(NIBAN3):c.1640G>T (p.Gly547Val)	NIBAN3 (G547V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199977	NM_001321827.2(NIBAN3):c.1636C>T (p.Arg546Trp)	NIBAN3 (R546W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199976	NM_001321827.2(NIBAN3):c.74T>A (p.Leu25Gln)	NIBAN3 (L56Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199975	NM_001321827.2(NIBAN3):c.1396T>C (p.Cys466Arg)	NIBAN3 (C223R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199974	NM_001321827.2(NIBAN3):c.1345G>A (p.Val449Met)	NIBAN3 (V206M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199973	NM_001321827.2(NIBAN3):c.1342G>A (p.Ala448Thr)	NIBAN3 (A205T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199972	NM_173544.5(NIBAN3):c.13C>T (p.Arg5Trp)	NIBAN3 (R5W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199971	NM_173544.5(NIBAN3):c.13C>G (p.Arg5Gly)	NIBAN3 (R5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199970	NM_001321827.2(NIBAN3):c.41G>A (p.Arg14Gln)	NIBAN3 (R14Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3199969	NM_001321827.2(NIBAN3):c.1244G>A (p.Arg415Gln)	NIBAN3 (R172Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199968	NM_001321827.2(NIBAN3):c.1226G>A (p.Arg409His)	NIBAN3 (R409H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199967	NM_001321827.2(NIBAN3):c.1205C>T (p.Ala402Val)	NIBAN3 (A402V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199966	NM_001321827.2(NIBAN3):c.33G>C (p.Lys11Asn)	NIBAN3 (K11N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199965	NM_001321827.2(NIBAN3):c.1063A>C (p.Thr355Pro)	NIBAN3 (T112P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199964	NM_001321827.2(NIBAN3):c.1013G>T (p.Arg338Leu)	NIBAN3 (R338L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199963	NM_001321827.2(NIBAN3):c.992G>T (p.Gly331Val)	NIBAN3 (G88V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199962	NM_001321827.2(NIBAN3):c.980C>T (p.Thr327Met)	NIBAN3 (T358M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199961	NM_001321827.2(NIBAN3):c.10C>T (p.Arg4Trp)	NIBAN3 (R35W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2685630	GRCh37/hg19 19p13.11(chr19:17658932-17883270)x1	COLGALT1, FCHO1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2619040	NM_001321827.2(NIBAN3):c.1369G>T (p.Asp457Tyr)	NIBAN3 (D214Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613291	NM_001321827.2(NIBAN3):c.1243C>T (p.Arg415Trp)	NIBAN3 (R172W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610758	NM_001321827.2(NIBAN3):c.*1627C>A	NIBAN3 (H655N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596792	NM_001321827.2(NIBAN3):c.1237C>T (p.Arg413Trp)	NIBAN3 (R413W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590544	NM_001321827.2(NIBAN3):c.1630G>A (p.Val544Ile)	NIBAN3 (V544I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551783	NM_001321827.2(NIBAN3):c.1346T>C (p.Val449Ala)	NIBAN3 (V480A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539744	NM_001321827.2(NIBAN3):c.-56G>A	NIBAN3 (G13E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525738	NM_001321827.2(NIBAN3):c.1600G>T (p.Ala534Ser)	NIBAN3 (A498S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491769	NM_001321827.2(NIBAN3):c.1060C>A (p.Arg354Ser)	NIBAN3 (R385S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2491113	NM_001321827.2(NIBAN3):c.277G>A (p.Gly93Arg)	NIBAN3 (G93R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487262	NM_001321827.2(NIBAN3):c.1168G>C (p.Glu390Gln)	NIBAN3 (E421Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486836	NM_001321827.2(NIBAN3):c.1550A>G (p.Lys517Arg)	NIBAN3 (K517R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485121	NM_001321827.2(NIBAN3):c.212G>A (p.Arg71Gln)	NIBAN3 (R102Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472150	NM_001321827.2(NIBAN3):c.554G>C (p.Trp185Ser)	NIBAN3 (W185S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470136	NM_001321827.2(NIBAN3):c.*1628A>G	NIBAN3 (H655R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2467116	NM_001321827.2(NIBAN3):c.287G>A (p.Arg96His)	NIBAN3 (R127H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464252	NM_001321827.2(NIBAN3):c.1136G>T (p.Arg379Leu)	NIBAN3 (R136L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458290	NM_001321827.2(NIBAN3):c.1465G>A (p.Gly489Arg)	NIBAN3 (G489R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456150	NM_001321827.2(NIBAN3):c.1171G>C (p.Val391Leu)	NIBAN3 (V422L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 980193	GRCh37/hg19 19p13.11(chr19:17639605-17992841)x3	RPL18A, NIBAN3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 771516	NM_001321827.2(NIBAN3):c.1666+4A>G	NIBAN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441789	GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1	ABHD8, ANKLE1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 253947	GRCh37/hg19 19p13.11(chr19:17514059-17899363)x3	NIBAN3, PGLS-DT +10 more	Copy number gain	See cases	GUncertain significance
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 69