"Ambry Genetics"[submitter] AND "FAM161B"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2244563	NM_021188.3(ZNF410):c.1295G>T (p.Arg432Leu)	FAM161B, ZNF410 (R359L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213531	NM_021188.3(ZNF410):c.1295G>A (p.Arg432His)	ZNF410, FAM161B (R236H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379308	NM_152445.3(FAM161B):c.1930G>C (p.Val644Leu)	FAM161B (V644L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2619567	NM_152445.3(FAM161B):c.1913A>C (p.Gln638Pro)	FAM161B (Q638P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615957	NM_152445.3(FAM161B):c.1867G>A (p.Glu623Lys)	FAM161B (E623K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547742	NM_152445.3(FAM161B):c.1820C>T (p.Thr607Ile)	FAM161B (T607I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513112	NM_152445.3(FAM161B):c.1806G>T (p.Arg602Ser)	FAM161B (R602S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2356380	NM_152445.3(FAM161B):c.1802C>G (p.Pro601Arg)	FAM161B (P601R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340536	NM_152445.3(FAM161B):c.1642T>A (p.Tyr548Asn)	FAM161B (Y548N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264669	NM_152445.3(FAM161B):c.1622A>C (p.Gln541Pro)	FAM161B (Q541P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222316	NM_152445.3(FAM161B):c.1586C>T (p.Ala529Val)	FAM161B (A529V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395094	NM_152445.3(FAM161B):c.1564C>T (p.Arg522Trp)	FAM161B (R522W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623698	NM_152445.3(FAM161B):c.1436G>A (p.Ser479Asn)	FAM161B (S479N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539362	NM_152445.3(FAM161B):c.1361A>C (p.His454Pro)	FAM161B (H454P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235249	NM_152445.3(FAM161B):c.1216G>A (p.Ala406Thr)	FAM161B (A406T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272615	NM_152445.3(FAM161B):c.1190G>T (p.Arg397Leu)	FAM161B (R397L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239665	NM_152445.3(FAM161B):c.1100G>A (p.Arg367Gln)	FAM161B (R367Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248747	NM_152445.3(FAM161B):c.1099C>T (p.Arg367Trp)	FAM161B (R367W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568769	NM_152445.3(FAM161B):c.1033C>T (p.Arg345Cys)	FAM161B (R345C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297168	NM_152445.3(FAM161B):c.1003T>G (p.Ser335Ala)	FAM161B (S335A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540104	NM_152445.3(FAM161B):c.838A>G (p.Thr280Ala)	FAM161B (T280A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615761	NM_152445.3(FAM161B):c.787G>A (p.Glu263Lys)	FAM161B (E263K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262297	NM_152445.3(FAM161B):c.698T>G (p.Ile233Ser)	FAM161B (I233S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220231	NM_152445.3(FAM161B):c.676T>C (p.Tyr226His)	FAM161B (Y226H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388993	NM_152445.3(FAM161B):c.602G>A (p.Arg201Gln)	FAM161B (R201Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2294274	NM_152445.3(FAM161B):c.601C>T (p.Arg201Trp)	FAM161B (R201W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222202	NM_152445.3(FAM161B):c.568G>A (p.Gly190Ser)	FAM161B (G190S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519933	NM_152445.3(FAM161B):c.518G>A (p.Arg173Gln)	FAM161B (R173Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2618962	NM_152445.3(FAM161B):c.505A>G (p.Ile169Val)	FAM161B (I169V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281028	NM_152445.3(FAM161B):c.395G>A (p.Cys132Tyr)	FAM161B (C132Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531181	NM_152445.3(FAM161B):c.326A>G (p.Gln109Arg)	FAM161B (Q109R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2222467	NM_152445.3(FAM161B):c.288C>G (p.Asn96Lys)	FAM161B (N96K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391023	NM_152445.3(FAM161B):c.256C>T (p.Leu86Phe)	FAM161B (L86F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589998	NM_152445.3(FAM161B):c.232G>T (p.Gly78Trp)	FAM161B (G78W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373880	NM_152445.3(FAM161B):c.86A>G (p.Glu29Gly)	FAM161B (E29G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481693	NM_152445.3(FAM161B):c.61C>T (p.Pro21Ser)	FAM161B (P21S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2354415	NM_152445.3(FAM161B):c.58T>C (p.Phe20Leu)	FAM161B (F20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458299	NM_152445.3(FAM161B):c.34G>A (p.Gly12Ser)	COQ6, FAM161B (G12S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493397	NM_152445.3(FAM161B):c.1A>G (p.Met1Val)	COQ6, FAM161B (M1V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2374766	NM_152445.3(FAM161B):c.-36C>A	COQ6, FAM161B	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2287487	NM_152445.3(FAM161B):c.-47G>A	COQ6, FAM161B	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2551934	NM_152445.2(FAM161B):c.121C>T (p.His41Tyr)	COQ6, FAM161B (H41Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 42