ClinVar for Gene (Select 221938) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217591	NM_198403.4(MMD2):c.734C>G (p.Ser245Cys)	MMD2 (S269C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217500	NM_198403.4(MMD2):c.577G>T (p.Val193Phe)	MMD2 (V217F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3217239	NM_198403.4(MMD2):c.406C>T (p.Arg136Cys)	MMD2 (R136C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3216967	NM_198403.4(MMD2):c.135G>T (p.Trp45Cys)	MMD2 (W45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684479	GRCh37/hg19 7p22.1(chr7:4909470-5331753)x3	MMD2, RADIL +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2598565	NM_198403.4(MMD2):c.616G>A (p.Gly206Arg)	MMD2 (G206R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588512	NM_198403.4(MMD2):c.295G>T (p.Val99Leu)	MMD2 (V99L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538860	NM_198403.4(MMD2):c.203C>G (p.Ser68Cys)	MMD2 (S68C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531589	NM_198403.4(MMD2):c.503T>C (p.Met168Thr)	MMD2 (M168T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530403	NM_198403.4(MMD2):c.468-54G>T	MMD2 (Q162H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517942	NM_198403.4(MMD2):c.319G>T (p.Asp107Tyr)	MMD2 (D107Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515290	NM_198403.4(MMD2):c.263C>T (p.Thr88Ile)	MMD2 (T88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483240	NM_198403.4(MMD2):c.61C>G (p.Arg21Gly)	MMD2 (R21G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477987	NM_198403.4(MMD2):c.704A>G (p.Tyr235Cys)	MMD2 (Y235C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409359	NM_198403.4(MMD2):c.496G>A (p.Val166Ile)	MMD2 (V166I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381788	NM_198403.4(MMD2):c.271T>C (p.Trp91Arg)	MMD2 (W91R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314228	NM_198403.4(MMD2):c.319G>A (p.Asp107Asn)	MMD2 (D107N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303752	NM_198403.4(MMD2):c.468-25C>T	MMD2 (A172V)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 2278425	NM_198403.4(MMD2):c.444C>G (p.Ile148Met)	MMD2 (I148M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273662	NM_198403.4(MMD2):c.181G>A (p.Asp61Asn)	MMD2 (D61N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265819	NM_198403.4(MMD2):c.468-62T>G	MMD2 (C160G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260677	NM_198403.4(MMD2):c.376C>T (p.Arg126Trp)	MMD2 (R126W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234958	NM_198403.4(MMD2):c.539C>T (p.Pro180Leu)	MMD2 (P180L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1809374	GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1	ACTB, AP5Z1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1809324	GRCh37/hg19 7p22.1(chr7:4868426-5184301)x3	MMD2, PAPOLB +3 more	Copy number gain	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341124	GRCh37/hg19 7p22.1(chr7:4953918-5184301)x3	MMD2, RBAK +1 more	Copy number gain	not provided	GUncertain significance
Select item 980814	GRCh37/hg19 7p22.2-22.1(chr7:4457599-5138409)x3	AP5Z1, FOXK1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980262	GRCh37/hg19 7p22.1(chr7:4733073-5157165)x3	RBAK, RBAK-RBAKDN +5 more	Copy number gain	not provided	GUncertain significance
Select item 974755	NC_000007.13:g.4929022_5218030dup	RBAK, MMD2 +1 more	Duplication	Megacolon	GUncertain significance
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 548976	GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3	AP5Z1, FOXK1 +8 more	Copy number gain	See cases	GLikely pathogenic
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443404	GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	ACTB, AIMP2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443317	GRCh37/hg19 7p22.2-22.1(chr7:4412278-4933853)x3	AP5Z1, FOXK1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 443024	GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1	AMZ1, AP5Z1 +26 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	ACTB, ADAP1 +80 more	Copy number gain	See cases	GPathogenic
Select item 254008	GRCh37/hg19 7p22.1(chr7:4560890-5028707)x1	AP5Z1, RADIL +3 more	Copy number loss	See cases	GUncertain significance
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 150788	GRCh38/hg38 7p22.1(chr7:4922492-5112002)x3	LOC129389731, LOC129997867 +5 more	Copy number gain	See cases	GLikely benign
Select item 148915	GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3	ACTB, FBXL18 +75 more	Copy number gain	See cases	GLikely pathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	LOC123924897, LOC123924898 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 57293	GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3	AP5Z1, FOXK1 +33 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 68