MORC1[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	LOC129389108, LOC129389109 +89 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 150361	GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1	BBX, C3orf85 +61 more	Copy number loss	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 150604	GRCh38/hg38 3q13.13(chr3:108920434-109251009)x1	C3orf85, GUCA1C +4 more	Copy number loss	See cases	GUncertain significance
Select item 2323746	NM_014429.4(MORC1):c.2941A>G (p.Thr981Ala)	MORC1 (T981A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622266	NM_014429.4(MORC1):c.2917C>T (p.Leu973Phe)	MORC1 (L973F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605170	NM_014429.4(MORC1):c.2863A>G (p.Asn955Asp)	MORC1 (N955D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199856	NM_014429.4(MORC1):c.2800G>C (p.Gly934Arg)	MORC1 (G934R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296307	NM_014429.4(MORC1):c.2648G>A (p.Arg883Lys)	MORC1 (R883K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199850	NM_014429.4(MORC1):c.2602C>A (p.Gln868Lys)	MORC1 (Q868K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218255	NM_014429.4(MORC1):c.2411C>G (p.Ser804Cys)	MORC1 (S804C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391890	NM_014429.4(MORC1):c.2348A>G (p.Asp783Gly)	MORC1 (D783G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522412	NM_014429.4(MORC1):c.2342T>C (p.Met781Thr)	MORC1 (M781T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337095	NM_014429.4(MORC1):c.2333A>G (p.Asn778Ser)	MORC1 (N778S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254870	NM_014429.4(MORC1):c.2323A>G (p.Ser775Gly)	MORC1 (S775G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713298	NM_014429.4(MORC1):c.2247T>A (p.Leu749=)	MORC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2261007	NM_014429.4(MORC1):c.2087C>T (p.Ala696Val)	MORC1 (A696V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295572	NM_014429.4(MORC1):c.2030A>G (p.Asn677Ser)	MORC1 (N677S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375452	NM_014429.4(MORC1):c.1994A>G (p.Lys665Arg)	MORC1 (K665R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300912	NM_014429.4(MORC1):c.1988A>T (p.Asn663Ile)	MORC1 (N663I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295568	NM_014429.4(MORC1):c.1550A>G (p.Asn517Ser)	MORC1 (N517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338750	NM_014429.4(MORC1):c.1474T>C (p.Trp492Arg)	MORC1 (W492R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390749	NM_014429.4(MORC1):c.1351T>G (p.Phe451Val)	MORC1 (F451V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295571	NM_014429.4(MORC1):c.1228C>T (p.Pro410Ser)	MORC1 (P410S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199815	NM_014429.4(MORC1):c.1177C>T (p.Leu393Phe)	MORC1 (L393F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323303	NM_014429.4(MORC1):c.1136T>C (p.Met379Thr)	MORC1 (M379T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612494	NM_014429.4(MORC1):c.1078G>A (p.Val360Ile)	MORC1 (V360I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546343	NM_014429.4(MORC1):c.1067A>G (p.Tyr356Cys)	MORC1 (Y356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713299	NM_014429.4(MORC1):c.965A>T (p.Lys322Met)	MORC1 (K322M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2210731	NM_014429.4(MORC1):c.770A>G (p.Lys257Arg)	MORC1 (K257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295567	NM_014429.4(MORC1):c.715G>A (p.Ala239Thr)	MORC1 (A239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199939	NM_014429.4(MORC1):c.698C>A (p.Ala233Glu)	MORC1 (A233E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199931	NM_014429.4(MORC1):c.572A>G (p.Tyr191Cys)	MORC1 (Y191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402773	NM_014429.4(MORC1):c.519A>C (p.Lys173Asn)	MORC1 (K173N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547861	NM_014429.4(MORC1):c.493G>A (p.Ala165Thr)	MORC1 (A165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463230	NM_014429.4(MORC1):c.472A>G (p.Thr158Ala)	MORC1 (T158A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199902	NM_014429.4(MORC1):c.439C>A (p.Pro147Thr)	MORC1 (P147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216607	NM_014429.4(MORC1):c.436A>G (p.Met146Val)	MORC1 (M146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529698	NM_014429.4(MORC1):c.419G>A (p.Ser140Asn)	MORC1 (S140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407825	NM_014429.4(MORC1):c.343A>G (p.Ile115Val)	MORC1 (I115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235596	NM_014429.4(MORC1):c.322A>G (p.Met108Val)	MORC1 (M108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480535	NM_014429.4(MORC1):c.301A>G (p.Asn101Asp)	MORC1 (N101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720345	NM_014429.4(MORC1):c.108G>A (p.Leu36=)	MORC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3295569	NM_014429.4(MORC1):c.28C>T (p.Arg10Trp)	MORC1 (R10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685089	GRCh37/hg19 3q13.12-13.13(chr3:106530324-108811014)x1	BBX, CCDC54 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 974751	NC_000003.11:g.108481092_108926543del	MORC1, MORC1-AS1 +2 more	Deletion	Megacolon	GUncertain significance
Select item 814469	GRCh37/hg19 3q13.13(chr3:108483112-108911182)x1	TRAT1, MORC1-AS1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 562803	GRCh37/hg19 3q13.13(chr3:108597544-109019701)x3	MORC1, MORC1-AS1 +2 more	Copy number gain	not provided	GLikely benign
Select item 562802	GRCh37/hg19 3q13.13(chr3:108499505-108911182)x3	MORC1-AS1, MORC1 +2 more	Copy number gain	not provided	GLikely benign
Select item 562799	GRCh37/hg19 3q13.12-13.13(chr3:106706719-109171489)x1	MORC1-AS1, DZIP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic
Select item 226150	GRCh37/hg19 3q13.13(chr3:108616806-109014594)	MORC1-AS1, MORC1 +2 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 64