ClinVar for Gene (Select 340069) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091995	NM_001367956.1(FAM170A):c.881C>T (p.Pro294Leu)	FAM170A (P294L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091994	NM_001367956.1(FAM170A):c.83C>T (p.Ser28Phe)	FAM170A (S28F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091993	NM_001367956.1(FAM170A):c.736C>T (p.His246Tyr)	FAM170A (H199Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091992	NM_001367956.1(FAM170A):c.704G>A (p.Arg235Gln)	FAM170A (R188Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091991	NM_001367956.1(FAM170A):c.441A>C (p.Glu147Asp)	FAM170A (E147D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091990	NM_001367956.1(FAM170A):c.439G>A (p.Glu147Lys)	FAM170A (E100K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091989	NM_001367956.1(FAM170A):c.362A>C (p.Lys121Thr)	FAM170A (K121T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091988	NM_001367956.1(FAM170A):c.340G>A (p.Val114Met)	FAM170A (V114M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091987	NM_001367956.1(FAM170A):c.311T>C (p.Leu104Ser)	FAM170A (L104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091985	NM_001367956.1(FAM170A):c.122C>T (p.Ala41Val)	FAM170A (A41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062851	GRCh37/hg19 5q23.1(chr5:118652708-119109588)x3	FAM170A, HSD17B4 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 3024385	GRCh38/hg38 5q23.1(chr5:119555413-119745470)	FAM170A, LOC129994462	Copy number loss	Autism spectrum disorder	GLikely pathogenic
Select item 2550815	NM_001367956.1(FAM170A):c.958T>C (p.Cys320Arg)	FAM170A (C273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550325	NM_001367956.1(FAM170A):c.128G>A (p.Gly43Asp)	FAM170A (G43D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549158	NM_001367956.1(FAM170A):c.862A>G (p.Lys288Glu)	FAM170A (K241E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547647	NM_001367956.1(FAM170A):c.902G>A (p.Gly301Glu)	FAM170A (G301E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523014	NM_001367956.1(FAM170A):c.143T>C (p.Val48Ala)	FAM170A (V48A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489575	NM_001367956.1(FAM170A):c.974C>T (p.Pro325Leu)	FAM170A (P278L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473004	NM_001367956.1(FAM170A):c.151G>A (p.Val51Ile)	FAM170A (V51I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410997	NM_001367956.1(FAM170A):c.806G>T (p.Gly269Val)	FAM170A (G269V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400382	NM_001367956.1(FAM170A):c.673G>A (p.Glu225Lys)	FAM170A (E178K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399485	NM_001367956.1(FAM170A):c.112A>T (p.Thr38Ser)	FAM170A (T38S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394818	NM_001367956.1(FAM170A):c.6A>T (p.Lys2Asn)	FAM170A (K2N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386658	NM_001367956.1(FAM170A):c.782A>G (p.His261Arg)	FAM170A (H261R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383290	NM_001367956.1(FAM170A):c.230G>A (p.Arg77Gln)	FAM170A (R30Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333768	NM_001367956.1(FAM170A):c.706G>T (p.Val236Leu)	FAM170A (V189L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313189	NM_001367956.1(FAM170A):c.74T>A (p.Met25Lys)	FAM170A (M25K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308208	NM_001367956.1(FAM170A):c.166G>A (p.Glu56Lys)	FAM170A (E56K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293778	NM_001367956.1(FAM170A):c.889A>G (p.Lys297Glu)	FAM170A (K250E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270789	NM_001367956.1(FAM170A):c.554G>T (p.Ser185Ile)	FAM170A (S138I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807610	GRCh37/hg19 5q23.1(chr5:116399071-120032310)x3	DMXL1, DTWD2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1340081	GRCh37/hg19 5q23.1(chr5:117953785-119242548)x3	DMXL1, DTWD2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1177480	GRCh37/hg19 5q23.1(chr5:116419511-120022321)x3	DMXL1, DTWD2 +4 more	Copy number gain	not provided	Gnot provided
Select item 814738	GRCh37/hg19 5q23.1(chr5:118887155-119092956)x1	FAM170A	Copy number loss	not provided	GUncertain significance
Select item 688743	GRCh37/hg19 5q23.1(chr5:117373700-121001806)x1	DMXL1, DTWD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARSK, CSNK1G3 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 393534	GRCh37/hg19 5q23.1(chr5:118890915-119082631)x1	FAM170A	Copy number loss	VATER association	GLikely pathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 58