FAM171B[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 3277268	NM_177454.4(FAM171B):c.22G>T (p.Val8Phe)	FAM171B, LOC129935235 (V8F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596083	NM_177454.4(FAM171B):c.52G>T (p.Val18Leu)	FAM171B (V18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711857	NM_177454.4(FAM171B):c.147G>A (p.Gln49=)	FAM171B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2282377	NM_177454.4(FAM171B):c.181G>A (p.Glu61Lys)	FAM171B (E61K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092047	NM_177454.4(FAM171B):c.199A>G (p.Thr67Ala)	FAM171B (T67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092048	NM_177454.4(FAM171B):c.239T>C (p.Val80Ala)	FAM171B (V80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777369	NM_177454.4(FAM171B):c.284G>A (p.Arg95His)	FAM171B (R95H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713054	NM_177454.4(FAM171B):c.330G>A (p.Thr110=)	FAM171B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2514746	NM_177454.4(FAM171B):c.407C>T (p.Thr136Ile)	FAM171B (T136I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528249	NM_177454.4(FAM171B):c.605T>C (p.Leu202Ser)	FAM171B (L202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277264	NM_177454.4(FAM171B):c.640G>A (p.Val214Ile)	FAM171B (V214I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277266	NM_177454.4(FAM171B):c.733A>G (p.Asn245Asp)	FAM171B (N245D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791879	NM_177454.4(FAM171B):c.748C>T (p.Pro250Ser)	FAM171B (P250S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2495430	NM_177454.4(FAM171B):c.794T>C (p.Leu265Pro)	FAM171B (L265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612953	NM_177454.4(FAM171B):c.796A>C (p.Lys266Gln)	FAM171B (K266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092051	NM_177454.4(FAM171B):c.811A>G (p.Ile271Val)	FAM171B (I271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092052	NM_177454.4(FAM171B):c.827C>T (p.Pro276Leu)	FAM171B (P276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277262	NM_177454.4(FAM171B):c.863G>A (p.Arg288His)	FAM171B (R288H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468653	NM_177454.4(FAM171B):c.871G>T (p.Ala291Ser)	FAM171B (A291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405999	NM_177454.4(FAM171B):c.886A>G (p.Met296Val)	FAM171B (M296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310314	NM_177454.4(FAM171B):c.937A>G (p.Asn313Asp)	FAM171B (N313D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092045	NM_177454.4(FAM171B):c.1004G>A (p.Gly335Glu)	FAM171B (G335E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277263	NM_177454.4(FAM171B):c.1145G>A (p.Cys382Tyr)	FAM171B (C382Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608409	NM_177454.4(FAM171B):c.1348A>G (p.Arg450Gly)	FAM171B (R450G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529343	NM_177454.4(FAM171B):c.1391A>G (p.Asn464Ser)	FAM171B (N464S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387766	NM_177454.4(FAM171B):c.1420C>A (p.Gln474Lys)	FAM171B (Q474K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456341	NM_177454.4(FAM171B):c.1463A>G (p.Asn488Ser)	FAM171B (N488S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396413	NM_177454.4(FAM171B):c.1480C>A (p.Pro494Thr)	FAM171B (P494T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786489	NM_177454.4(FAM171B):c.1563G>A (p.Ala521=)	FAM171B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3092046	NM_177454.4(FAM171B):c.1657C>A (p.Gln553Lys)	FAM171B (Q553K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594291	NM_177454.4(FAM171B):c.1705G>A (p.Val569Ile)	FAM171B (V569I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284698	NM_177454.4(FAM171B):c.1736G>A (p.Arg579Gln)	FAM171B (R579Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277267	NM_177454.4(FAM171B):c.1769C>T (p.Pro590Leu)	FAM171B (P590L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266236	NM_177454.4(FAM171B):c.1868A>T (p.Tyr623Phe)	FAM171B (Y623F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277265	NM_177454.4(FAM171B):c.2072A>C (p.Asp691Ala)	FAM171B (D691A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591112	NM_177454.4(FAM171B):c.2336C>T (p.Ser779Leu)	FAM171B (S779L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366243	NM_177454.4(FAM171B):c.2387C>G (p.Thr796Ser)	FAM171B (T796S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092049	NM_177454.4(FAM171B):c.2408C>A (p.Pro803Gln)	FAM171B (P803Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568696	NM_177454.4(FAM171B):c.2459G>A (p.Arg820His)	FAM171B (R820H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775794	NM_177454.4(FAM171B):c.2472C>T (p.Pro824=)	FAM171B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1809170	GRCh37/hg19 2q32.1(chr2:187466416-188487473)x3	CALCRL, FAM171B +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 688783	GRCh37/hg19 2q32.1(chr2:187445266-187627894)x3	FAM171B, ITGAV	Copy number gain	not provided	GUncertain significance
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 687001	GRCh37/hg19 2q32.1(chr2:186234826-188972311)x3	CALCRL, FAM171B +5 more	Copy number gain	not provided	GUncertain significance
Select item 685156	GRCh37/hg19 2q32.1(chr2:186861444-188658263)x1	CALCRL, FAM171B +4 more	Copy number loss	not provided	GUncertain significance
Select item 635896	Single allele	CALCRL, FAM171B +5 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 68