3779[geneid] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 148246	GRCh38/hg38 5q35.1(chr5:170226622-171028731)x3	C5orf58, GABRP +22 more	Copy number gain	See cases	GLikely benign
Select item 2534126	NM_004137.4(KCNMB1):c.527C>A (p.Ala176Asp)	KCNIP1, KCNMB1 (A176D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269024	NM_004137.4(KCNMB1):c.479C>G (p.Ser160Cys)	KCNIP1, KCNMB1 (S160C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113434	NM_004137.4(KCNMB1):c.436G>A (p.Val146Ile)	KCNIP1, KCNMB1 (V146I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217355	NM_004137.4(KCNMB1):c.434G>A (p.Ser145Asn)	KCNIP1, KCNMB1 (S145N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049582	NM_004137.4(KCNMB1):c.418C>T (p.Arg140Trp)	KCNIP1, KCNMB1 (R140W)	Single nucleotide variant (missense variant +1 more)	KCNMB1-related disorder	GBenign
Select item 2225607	NM_004137.4(KCNMB1):c.413C>T (p.Ala138Val)	KCNIP1, KCNMB1 (A138V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377700	NM_004137.4(KCNMB1):c.379T>A (p.Phe127Ile)	KCNIP1, KCNMB1 (F127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211828	NM_004137.4(KCNMB1):c.337T>G (p.Tyr113Asp)	KCNIP1, KCNMB1 (Y113D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354643	NM_004137.4(KCNMB1):c.320C>T (p.Pro107Leu)	KCNIP1, KCNMB1 (P107L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469837	NM_004137.4(KCNMB1):c.299A>G (p.Asn100Ser)	KCNIP1, KCNMB1 (N100S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206806	NM_004137.4(KCNMB1):c.290G>A (p.Arg97Gln)	KCNIP1, KCNMB1 (R97Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224163	NM_004137.4(KCNMB1):c.278C>T (p.Thr93Met)	KCNIP1, KCNMB1 (T93M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372588	NM_004137.4(KCNMB1):c.241G>C (p.Val81Leu)	KCNIP1, KCNMB1 (V81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043247	NM_004137.4(KCNMB1):c.240C>T (p.Asn80=)	KCNIP1, KCNMB1	Single nucleotide variant (synonymous variant +1 more)	KCNMB1-related disorder	GLikely benign
Select item 3287707	NM_004137.4(KCNMB1):c.232T>C (p.Trp78Arg)	KCNIP1, KCNMB1 (W78R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 5941	NM_004137.4(KCNMB1):c.193G>A (p.Glu65Lys)	KCNIP1, KCNMB1 (E65K)	Single nucleotide variant (missense variant +1 more)	Hypertension, diastolic, resistance to +1 more	GBenign; protective
Select item 2533850	NM_004137.4(KCNMB1):c.94T>C (p.Tyr32His)	KCNIP1, KCNMB1 (Y32H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287706	NM_004137.4(KCNMB1):c.82G>A (p.Val28Ile)	KCNIP1, KCNMB1 (V28I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779246	NM_004137.4(KCNMB1):c.54C>T (p.Cys18=)	KCNIP1, KCNMB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3287709	NM_004137.4(KCNMB1):c.40A>T (p.Thr14Ser)	KCNIP1, KCNMB1 (T14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596722	NM_004137.4(KCNMB1):c.13C>A (p.Leu5Met)	KCNIP1, KCNMB1 (L5M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246414	NC_000005.9:g.(?_169064331)_(170245847_?)dup	C5orf58, DOCK2 +7 more	Duplication	DOCK2 deficiency	GUncertain significance
Select item 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 1809507	GRCh37/hg19 5q35.1(chr5:169679354-170242652)x3	GABRP, KCNIP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 980751	GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1	C5orf58, DOCK2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563122	GRCh37/hg19 5q35.1(chr5:169794603-169997638)x3	KCNMB1, KCNIP1	Copy number gain	not provided	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 441595	GRCh37/hg19 5q35.1(chr5:168955293-170432136)x1	C5orf58, DOCK2 +9 more	Copy number loss	See cases	GUncertain significance
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 394891	GRCh37/hg19 5q35.1(chr5:169805516-169996173)x3	KCNIP1, KCNMB1	Copy number gain	See cases	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 253799	GRCh37/hg19 5q35.1(chr5:169724500-170051199)x3	LOC100128059, LCP2 +2 more	Copy number gain	See cases	GUncertain significance

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Items: 46