ClinVar for Gene (Select 84539) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3124277	NM_001040179.2(MCHR2):c.992A>G (p.Asn331Ser)	MCHR2 (N331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124276	NM_001040179.2(MCHR2):c.701C>A (p.Ala234Asp)	MCHR2 (A234D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124275	NM_001040179.2(MCHR2):c.647G>T (p.Cys216Phe)	MCHR2 (C216F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124274	NM_001040179.2(MCHR2):c.479C>T (p.Ala160Val)	MCHR2 (A160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124273	NM_001040179.2(MCHR2):c.461A>G (p.Asn154Ser)	MCHR2 (N154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124271	NM_001040179.2(MCHR2):c.427C>T (p.Arg143Cys)	MCHR2 (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124270	NM_001040179.2(MCHR2):c.247A>C (p.Ile83Leu)	MCHR2 (I83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	FAXC, ASCC3 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3062913	GRCh37/hg19 6q16.2-16.3(chr6:100278355-104153505)x3	ASCC3, GRIK2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2600768	NM_001040179.2(MCHR2):c.403C>T (p.Leu135Phe)	MCHR2 (L135F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550924	NM_001040179.2(MCHR2):c.488T>A (p.Ile163Asn)	MCHR2 (I163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543228	NM_001040179.2(MCHR2):c.859G>T (p.Gly287Cys)	MCHR2 (G287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540418	NM_001040179.2(MCHR2):c.240G>T (p.Leu80Phe)	MCHR2 (L80F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514242	NM_001040179.2(MCHR2):c.419G>A (p.Arg140Gln)	MCHR2 (R140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507741	NM_001040179.2(MCHR2):c.485T>C (p.Phe162Ser)	MCHR2 (F162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397508	NM_001040179.2(MCHR2):c.434G>A (p.Arg145Lys)	MCHR2 (R145K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334534	NM_001040179.2(MCHR2):c.157A>G (p.Ile53Val)	MCHR2 (I53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332883	NM_001040179.2(MCHR2):c.149T>C (p.Val50Ala)	MCHR2 (V50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298907	NM_001040179.2(MCHR2):c.59G>T (p.Trp20Leu)	MCHR2 (W20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292809	NM_001040179.2(MCHR2):c.815T>C (p.Leu272Pro)	MCHR2 (L272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280841	NM_001040179.2(MCHR2):c.272A>C (p.His91Pro)	MCHR2 (H91P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808924	GRCh37/hg19 6q16.2-16.3(chr6:100403323-100774188)x3	MCHR2	Copy number gain	not provided	GUncertain significance
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	AFG1L, AK9 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 786094	NM_001040179.2(MCHR2):c.537C>T (p.Asp179=)	MCHR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739340	NM_001040179.2(MCHR2):c.405C>T (p.Leu135=)	MCHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737754	NM_001040179.2(MCHR2):c.915C>A (p.Leu305=)	MCHR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 560106	Single allele	CCNC, COQ3 +28 more	Deletion	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	KLHL32, LIN28B +49 more	Copy number loss	See cases	GPathogenic
Select item 443033	GRCh37/hg19 6q16.2-16.3(chr6:100278355-104929075)x1	ASCC3, GRIK2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic
Select item 442007	GRCh37/hg19 6q16.2-16.3(chr6:100263899-100793037)x3	MCHR2	Copy number gain	See cases	GUncertain significance
Select item 155521	GRCh38/hg38 6q16.2-16.3(chr6:99830479-100195802)x1	LOC129996883, MCHR2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 155102	GRCh38/hg38 6q16.2-16.3(chr6:99831123-100194965)x1	LOC129996883, MCHR2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	COQ3, ASCC3 +53 more	Copy number loss	See cases	GPathogenic
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46