29801[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	AFP, ALB +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC126807083, LOC129992743 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 57860	GRCh38/hg38 4q13.3(chr4:70072741-71612174)x3	AMBN, AMTN +30 more	Copy number gain	See cases	GUncertain significance
Select item 155363	GRCh38/hg38 4q13.3(chr4:70204468-71204531)x3	AMBN, AMTN +26 more	Copy number gain	See cases	GUncertain significance
Select item 57861	GRCh38/hg38 4q13.3(chr4:70675977-72158855)x3	DCK, GC +23 more	Copy number gain	See cases	GUncertain significance
Select item 57862	GRCh38/hg38 4q13.3(chr4:70727833-72040353)x3	DCK, GC +21 more	Copy number gain	See cases	GUncertain significance
Select item 3185181	NM_173468.4(MOB1B):c.12G>C (p.Leu4Phe)	MOB1B (L4F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3295481	NM_173468.4(MOB1B):c.47A>G (p.Lys16Arg)	MOB1B (K16R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488129	NM_173468.4(MOB1B):c.129G>A (p.Met43Ile)	MOB1B (M48I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185208	NM_173468.4(MOB1B):c.136A>G (p.Met46Val)	MOB1B (M46V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207235	NM_173468.4(MOB1B):c.154G>A (p.Asp52Asn)	MOB1B (D52N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185253	NM_173468.4(MOB1B):c.161A>G (p.Asn54Ser)	MOB1B (N54S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227161	NM_173468.4(MOB1B):c.302C>T (p.Thr101Met)	MOB1B (T101M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185310	NM_173468.4(MOB1B):c.319A>G (p.Ile107Val)	MOB1B (I107V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185344	NM_173468.4(MOB1B):c.328T>C (p.Ser110Pro)	MOB1B (S115P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185373	NM_173468.4(MOB1B):c.440T>C (p.Val147Ala)	MOB1B (V147A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185395	NM_173468.4(MOB1B):c.593G>A (p.Arg198Lys)	MOB1B (R203K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062769	GRCh37/hg19 4q13.3(chr4:71132998-72479262)x3	AMBN, AMTN +13 more	Copy number gain	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685972	GRCh37/hg19 4q13.3(chr4:71388666-72250823)x3	GRSF1, AMBN +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 1808219	GRCh37/hg19 4q13.3(chr4:71643631-71975779)x3	DCK, GRSF1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1340067	GRCh37/hg19 4q13.3(chr4:71561781-72059983)x3	DCK, GRSF1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 688874	GRCh37/hg19 4q13.3(chr4:70929700-72479262)x3	AMBN, AMTN +17 more	Copy number gain	not provided	GUncertain significance
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 40