ClinVar for Gene (Select 408187) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3169138	NM_001001325.2(SPINK14):c.95C>T (p.Pro32Leu)	SPINK14 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169137	NM_001001325.2(SPINK14):c.152A>G (p.Asn51Ser)	SPINK14 (N51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685176	GRCh37/hg19 5q32(chr5:147165102-147600692)x1	C5orf46, SCGB3A2 +4 more	Copy number loss	not provided	GPathogenic
Select item 2602463	NM_001001325.2(SPINK14):c.98G>A (p.Arg33His)	SPINK14 (R33H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381219	NM_001001325.2(SPINK14):c.76C>T (p.Pro26Ser)	SPINK14 (P26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219264	NM_001001325.2(SPINK14):c.204T>A (p.Asn68Lys)	SPINK14 (N68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808574	GRCh37/hg19 5q32(chr5:147164969-149315489)x1	ABLIM3, ADRB2 +23 more	Copy number loss	not provided	GPathogenic
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +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 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 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 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 147500	GRCh38/hg38 5q32(chr5:145197355-148541511)x1	C5orf46, CTB-99A3.1 +82 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 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 21