ClinVar for Gene (Select 134429) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170968	NM_139164.3(STARD4):c.419A>G (p.Glu140Gly)	STARD4 (E58G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170967	NM_139164.3(STARD4):c.299G>A (p.Arg100His)	STARD4 (R100H +2 more)	Single nucleotide variant (missense variant +1 more)	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 2671613	Single allele	CAMK4, EFNA5 +11 more	Deletion	not provided	GUncertain significance
Select item 2480124	NM_139164.3(STARD4):c.263T>C (p.Ile88Thr)	STARD4 (I6T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467014	NM_139164.3(STARD4):c.337C>T (p.Pro113Ser)	STARD4 (P31S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333423	NM_139164.3(STARD4):c.529C>A (p.Leu177Met)	STARD4 (L95M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254345	NM_139164.3(STARD4):c.227G>A (p.Arg76His)	STARD4 (R76H)	Single nucleotide variant (missense variant +3 more)	not specified	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 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
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	APBB3, CDX1 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442744	GRCh37/hg19 5q21.3-22.1(chr5:109146807-111474789)x4	CAMK4, MAN2A1 +6 more	Copy number gain	See cases	GUncertain significance
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 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 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	LOC129994289, LOC129994290 +342 more	Copy number loss	See cases	GPathogenic
Select item 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	EPB41L4A-DT, APC +134 more	Copy number loss	See cases	GPathogenic
Select item 153508	GRCh38/hg38 5q22.1(chr5:110469276-111738442)x1	CAMK4, LOC126807474 +32 more	Copy number loss	See cases	GUncertain significance
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994369, LOC129994370 +495 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 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 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 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 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 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 59447	GRCh38/hg38 5q22.1(chr5:110564896-111731572)x3	CAMK4, LOC126807474 +31 more	Copy number gain	See cases	GUncertain significance
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36