ClinVar for Gene (Select 2847) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3124269	NM_005297.4(MCHR1):c.742C>T (p.Arg248Trp)	MCHR1 (R248W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124268	NM_005297.3(MCHR1):c.5C>T (p.Ser2Leu)	MCHR1 (S2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124267	NM_005297.4(MCHR1):c.310A>G (p.Met104Val)	MCHR1 (M104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124266	NM_005297.3(MCHR1):c.34A>G (p.Arg12Gly)	MCHR1 (R12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124265	NM_005297.4(MCHR1):c.64G>A (p.Asp22Asn)	MCHR1 (D22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124264	NM_005297.4(MCHR1):c.-32G>T	MCHR1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3124263	NM_005297.4(MCHR1):c.-42A>T	MCHR1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3060391	NM_005297.4(MCHR1):c.743G>A (p.Arg248Gln)	MCHR1 (R248Q)	Single nucleotide variant (missense variant)	MCHR1-related disorder +1 more	GLikely benign
Select item 3060271	NM_005297.4(MCHR1):c.-69C>G	MCHR1	Single nucleotide variant (5 prime UTR variant)	MCHR1-related disorder	GLikely benign
Select item 3059605	NM_005297.4(MCHR1):c.-125A>T	MCHR1	Single nucleotide variant (5 prime UTR variant)	MCHR1-related disorder	GBenign
Select item 3051225	NM_005297.4(MCHR1):c.855G>A (p.Pro285=)	MCHR1	Single nucleotide variant (synonymous variant)	MCHR1-related disorder	GLikely benign
Select item 3046553	NM_005297.4(MCHR1):c.141C>T (p.Phe47=)	MCHR1	Single nucleotide variant (synonymous variant)	MCHR1-related disorder	GLikely benign
Select item 3044449	NM_005297.4(MCHR1):c.864C>T (p.Thr288=)	MCHR1	Single nucleotide variant (synonymous variant)	MCHR1-related disorder	GLikely benign
Select item 3042319	NM_005297.4(MCHR1):c.-134C>T	MCHR1	Single nucleotide variant (5 prime UTR variant)	MCHR1-related disorder	GLikely benign
Select item 3040673	NM_005297.4(MCHR1):c.951G>A (p.Thr317=)	MCHR1	Single nucleotide variant (synonymous variant)	MCHR1-related disorder	GLikely benign
Select item 3036307	NM_005297.4(MCHR1):c.282G>C (p.Leu94=)	MCHR1	Single nucleotide variant (synonymous variant)	MCHR1-related disorder	GLikely benign
Select item 3032786	NM_005297.4(MCHR1):c.-95C>T	MCHR1	Single nucleotide variant (5 prime UTR variant)	MCHR1-related disorder	GUncertain significance
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2653192	NM_005297.4(MCHR1):c.1025C>T (p.Thr342Met)	MCHR1 (T342M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2635718	NM_005297.4(MCHR1):c.1030G>A (p.Asp344Asn)	MCHR1 (D344N)	Single nucleotide variant (missense variant)	MCHR1-related disorder	GUncertain significance
Select item 2634202	NM_005297.4(MCHR1):c.-17C>T	MCHR1	Single nucleotide variant (5 prime UTR variant)	MCHR1-related disorder	GUncertain significance
Select item 2628608	NM_005297.4(MCHR1):c.679G>A (p.Ala227Thr)	MCHR1 (A227T)	Single nucleotide variant (missense variant)	MCHR1-related disorder	GUncertain significance
Select item 2621369	NM_005297.4(MCHR1):c.838T>G (p.Leu280Val)	MCHR1 (L280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618397	NM_005297.4(MCHR1):c.916C>T (p.Leu306Phe)	MCHR1 (L306F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591567	NM_005297.4(MCHR1):c.-153G>A	MCHR1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2554764	NM_005297.4(MCHR1):c.1034A>G (p.Glu345Gly)	MCHR1 (E345G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493320	NM_005297.4(MCHR1):c.-62A>C	MCHR1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2491956	NM_005297.4(MCHR1):c.-32G>A	MCHR1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2424165	NC_000022.10:g.(?_41074407)_(41489122_?)del	DNAJB7, EP300 +5 more	Deletion	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2409560	NM_005297.4(MCHR1):c.-129G>C	MCHR1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2395830	NM_005297.4(MCHR1):c.-122C>G	MCHR1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2365288	NM_005297.4(MCHR1):c.196G>A (p.Val66Met)	MCHR1 (V66M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2356513	NM_005297.4(MCHR1):c.473C>T (p.Ser158Phe)	MCHR1 (S158F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323427	NM_005297.4(MCHR1):c.77C>T (p.Ser26Leu)	MCHR1 (S26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259253	NM_005297.4(MCHR1):c.884C>T (p.Ala295Val)	MCHR1 (A295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258697	NM_005297.4(MCHR1):c.322G>T (p.Val108Leu)	MCHR1 (V108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249304	NM_005297.4(MCHR1):c.493T>C (p.Cys165Arg)	MCHR1 (C165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246136	NM_005297.4(MCHR1):c.307C>T (p.Leu103Phe)	MCHR1 (L103F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244977	NM_005297.4(MCHR1):c.1003C>T (p.Arg335Cys)	MCHR1 (R335C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233478	NM_005297.4(MCHR1):c.698A>G (p.Gln233Arg)	MCHR1 (Q233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205429	NM_005297.4(MCHR1):c.974C>T (p.Ser325Leu)	MCHR1 (S325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1808635	GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1	ADSL, DNAJB7 +12 more	Copy number loss	not provided	GPathogenic
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	ADSL, ATF4 +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1284474	NM_005297.4(MCHR1):c.100G>A (p.Gly34Arg)	MCHR1 (G34R)	Single nucleotide variant (missense variant)	MCHR1-related disorder	GBenign
Select item 1209892	NM_005297.4(MCHR1):c.530C>T (p.Pro177Leu)	MCHR1 (P177L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816227	GRCh37/hg19 22q13.1-13.2(chr22:40665986-41370008)x3	MRTFA, SGSM3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 732336	NM_005297.4(MCHR1):c.678C>T (p.Ala226=)	MCHR1	Single nucleotide variant (synonymous variant)	MCHR1-related disorder +1 more	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 564991	GRCh37/hg19 22q13.1-13.2(chr22:40873575-41132402)x3	MCHR1, MRTFA	Copy number gain	not provided	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 148595	GRCh38/hg38 22q13.1-13.2(chr22:40431454-40934348)x3	DNAJB7, LOC112695096 +23 more	Copy number gain	See cases	GUncertain significance
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 69