ClinVar for Gene (Select 23787) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296526	NM_001271641.2(MTCH1):c.211G>A (p.Gly71Ser)	MTCH1 (G71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	BRPF3, BNIP5 +18 more	Deletion	not provided	GPathogenic
Select item 3213598	NM_001271641.2(MTCH1):c.833A>G (p.Asn278Ser)	MTCH1 (N278S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213589	NM_001271641.2(MTCH1):c.713G>T (p.Ser238Ile)	MTCH1 (S238I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213574	NM_001271641.2(MTCH1):c.292C>T (p.Pro98Ser)	MTCH1 (P98S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2596440	NM_001271641.2(MTCH1):c.43G>T (p.Gly15Cys)	MTCH1 (G15C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558378	NM_001271641.2(MTCH1):c.979C>T (p.Pro327Ser)	MTCH1 (P310S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530737	NM_001271641.2(MTCH1):c.28C>G (p.Pro10Ala)	MTCH1 (P10A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520958	NM_001271641.2(MTCH1):c.1092T>G (p.Ser364Arg)	MTCH1 (S347R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481713	NM_001271641.2(MTCH1):c.76G>T (p.Ala26Ser)	MTCH1 (A26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2373232	NM_001271641.2(MTCH1):c.47C>G (p.Ala16Gly)	MTCH1 (A16G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339268	NM_001271641.2(MTCH1):c.356C>T (p.Thr119Ile)	MTCH1 (T119I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330292	NM_001271641.2(MTCH1):c.134C>T (p.Pro45Leu)	MTCH1 (P45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285576	NM_001271641.2(MTCH1):c.20A>T (p.Glu7Val)	MTCH1 (E7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264928	NM_001271641.2(MTCH1):c.434A>G (p.Lys145Arg)	MTCH1 (K145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213945	NM_001271641.2(MTCH1):c.5G>C (p.Gly2Ala)	MTCH1 (G2A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 687456	GRCh37/hg19 6p21.2(chr6:36776798-37106051)x3	C6orf89, CPNE5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685420	GRCh37/hg19 6p21.2(chr6:36880290-36959480)x3	C6orf89, MTCH1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155452	GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1	C6orf89, CPNE5 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150550	GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3	C6orf89, FGD2 +14 more	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 28