ClinVar for Gene (Select 374977) - ClinVar

Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 3025056	NM_001039464.4(MROH7):c.1188C>A (p.Asn396Lys)	MROH7, MROH7-TTC4 (N396K)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2685806	GRCh37/hg19 1p32.3(chr1:54898794-55112677)x3	MROH7, ACOT11 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638835	NM_001039464.4(MROH7):c.3729T>A (p.Ala1243=)	MROH7, MROH7-TTC4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2638834	NM_001039464.4(MROH7):c.3286-4C>T	MROH7, MROH7-TTC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2638833	NM_001039464.4(MROH7):c.1203C>T (p.Asp401=)	MROH7, MROH7-TTC4	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2638832	NM_001039464.4(MROH7):c.1191C>T (p.Pro397=)	MROH7, MROH7-TTC4	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2638831	NM_001039464.4(MROH7):c.594A>G (p.Ser198=)	MROH7, MROH7-TTC4	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2638830	NM_001039464.4(MROH7):c.191C>G (p.Ser64Cys)	MROH7, MROH7-TTC4 (S64C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2621066	NM_001039464.4(MROH7):c.3149T>C (p.Leu1050Pro)	MROH7, MROH7-TTC4 (L1050P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611115	NM_001039464.4(MROH7):c.2099C>A (p.Ala700Asp)	MROH7, MROH7-TTC4 (A218D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594913	NM_001039464.4(MROH7):c.3920G>A (p.Arg1307His)	MROH7, MROH7-TTC4 (R1307H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590222	NM_001039464.4(MROH7):c.3578G>A (p.Arg1193Gln)	MROH7, MROH7-TTC4 (R1193Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2568682	NM_001039464.4(MROH7):c.1817C>T (p.Pro606Leu)	MROH7, MROH7-TTC4 (P606L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558847	NM_001039464.4(MROH7):c.3631C>T (p.Arg1211Trp)	MROH7, MROH7-TTC4 (R1211W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551355	NM_001039464.4(MROH7):c.2189C>T (p.Ser730Leu)	MROH7, MROH7-TTC4 (S730L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522840	NM_001039464.4(MROH7):c.3215G>A (p.Arg1072Gln)	MROH7, MROH7-TTC4 (R590Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2515099	NM_001039464.4(MROH7):c.3601A>G (p.Ser1201Gly)	MROH7, MROH7-TTC4 (S1201G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507692	NM_001039464.4(MROH7):c.2171C>T (p.Ser724Leu)	MROH7, MROH7-TTC4 (S724L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492607	NM_001039464.4(MROH7):c.1580C>T (p.Ala527Val)	MROH7, MROH7-TTC4 (A527V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489725	NM_001039464.4(MROH7):c.3315C>G (p.Ile1105Met)	MROH7, MROH7-TTC4 (I623M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485133	NM_001039464.4(MROH7):c.2177T>C (p.Val726Ala)	MROH7, MROH7-TTC4 (V244A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484062	NM_001039464.4(MROH7):c.3029G>T (p.Gly1010Val)	MROH7-TTC4, MROH7 (G528V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457848	NM_001039464.4(MROH7):c.3071G>A (p.Arg1024Gln)	MROH7, MROH7-TTC4 (R1024Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455876	NM_001039464.4(MROH7):c.2884C>T (p.Arg962Cys)	MROH7, MROH7-TTC4 (R480C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454820	NM_001039464.4(MROH7):c.953A>G (p.Asn318Ser)	MROH7, MROH7-TTC4 (N318S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2408220	NM_001039464.4(MROH7):c.3182C>T (p.Ala1061Val)	MROH7, MROH7-TTC4 (A1061V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405692	NM_001039464.4(MROH7):c.1655T>A (p.Ile552Asn)	MROH7-TTC4, MROH7 (I552N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401584	NM_001039464.4(MROH7):c.358C>T (p.Arg120Cys)	MROH7, MROH7-TTC4 (R120C)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2400140	NM_001039464.4(MROH7):c.3272C>T (p.Pro1091Leu)	MROH7-TTC4, MROH7 (P1091L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397007	NM_001039464.4(MROH7):c.719T>G (p.Leu240Arg)	MROH7-TTC4, MROH7 (L240R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2396222	NM_001039464.4(MROH7):c.316G>T (p.Asp106Tyr)	MROH7-TTC4, MROH7 (D106Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2388672	NM_001039464.4(MROH7):c.1981A>G (p.Ser661Gly)	MROH7-TTC4, MROH7 (S179G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376240	NM_001039464.4(MROH7):c.3016C>T (p.Arg1006Trp)	MROH7-TTC4, MROH7 (R1006W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374229	NM_001039464.4(MROH7):c.3091C>G (p.Arg1031Gly)	MROH7-TTC4, MROH7 (R1031G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373289	NM_001039464.4(MROH7):c.3947C>T (p.Ser1316Phe)	MROH7-TTC4, MROH7 (S1316F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372325	NM_001039464.4(MROH7):c.3305C>T (p.Ser1102Phe)	MROH7, MROH7-TTC4 (S1102F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366303	NM_001039464.4(MROH7):c.2102C>T (p.Ala701Val)	MROH7-TTC4, MROH7 (A701V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362290	NM_001039464.4(MROH7):c.233A>G (p.Glu78Gly)	MROH7-TTC4, MROH7 (E78G)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2358124	NM_001039464.4(MROH7):c.1736G>A (p.Arg579Gln)	MROH7-TTC4, MROH7 (R579Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343355	NM_001039464.4(MROH7):c.1096C>T (p.His366Tyr)	MROH7-TTC4, MROH7 (H366Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2341829	NM_001039464.4(MROH7):c.2101G>A (p.Ala701Thr)	MROH7-TTC4, MROH7 (A701T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335601	NM_001039464.4(MROH7):c.1235C>T (p.Ala412Val)	MROH7, MROH7-TTC4 (A412V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2332353	NM_001039464.4(MROH7):c.3218A>G (p.Asp1073Gly)	MROH7, MROH7-TTC4 (D591G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331153	NM_001039464.4(MROH7):c.2287C>T (p.Arg763Cys)	MROH7, MROH7-TTC4 (R281C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325874	NM_001039464.4(MROH7):c.1558G>A (p.Ala520Thr)	MROH7, MROH7-TTC4 (A520T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324354	NM_001039464.4(MROH7):c.407C>T (p.Ala136Val)	MROH7, MROH7-TTC4 (A136V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2320091	NM_001039464.4(MROH7):c.1006A>T (p.Thr336Ser)	MROH7-TTC4, MROH7 (T336S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2318456	NM_001039464.4(MROH7):c.2444T>G (p.Leu815Arg)	MROH7-TTC4, MROH7 (L815R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311855	NM_001039464.4(MROH7):c.2512C>A (p.Pro838Thr)	MROH7, MROH7-TTC4 (P356T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310811	NM_001039464.4(MROH7):c.2710C>T (p.Arg904Cys)	MROH7, MROH7-TTC4 (R422C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301190	NM_001039464.4(MROH7):c.3592A>C (p.Ile1198Leu)	MROH7-TTC4, MROH7 (I1198L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298122	NM_001039464.4(MROH7):c.3821A>G (p.Asn1274Ser)	MROH7-TTC4, MROH7 (N1274S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283073	NM_001039464.4(MROH7):c.3877T>A (p.Trp1293Arg)	MROH7, MROH7-TTC4 (W811R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280182	NM_001039464.4(MROH7):c.166G>C (p.Ala56Pro)	MROH7, MROH7-TTC4 (A56P)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280067	NM_001039464.4(MROH7):c.668G>T (p.Arg223Ile)	MROH7, MROH7-TTC4 (R223I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2241352	NM_001039464.4(MROH7):c.1379A>G (p.Lys460Arg)	MROH7-TTC4, MROH7 (K460R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2236115	NM_001039464.4(MROH7):c.2570G>A (p.Arg857His)	MROH7-TTC4, MROH7 (R375H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230540	NM_001039464.4(MROH7):c.3210G>T (p.Lys1070Asn)	MROH7-TTC4, MROH7 (K1070N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224893	NM_001039464.4(MROH7):c.3676G>A (p.Val1226Ile)	MROH7-TTC4, MROH7 (V1226I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222826	NM_001039464.4(MROH7):c.2827C>T (p.Arg943Cys)	MROH7-TTC4, MROH7 (R943C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213798	NM_001039464.4(MROH7):c.359G>T (p.Arg120Leu)	MROH7, MROH7-TTC4 (R120L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2210101	NM_001039464.4(MROH7):c.1702G>C (p.Gly568Arg)	MROH7, MROH7-TTC4 (G86R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207432	NM_001039464.4(MROH7):c.823A>G (p.Thr275Ala)	MROH7, MROH7-TTC4 (T275A)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2205598	NM_001039464.4(MROH7):c.3627C>A (p.Asn1209Lys)	MROH7, MROH7-TTC4 (N1209K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 980375	GRCh37/hg19 1p32.3(chr1:55090187-55313988)x3	TTC4, LEXM +4 more	Copy number gain	not provided	GLikely benign
Select item 979902	GRCh37/hg19 1p32.3(chr1:55036105-55274639)x3	ACOT11, TTC4 +5 more	Copy number gain	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565100	GRCh37/hg19 1p32.3(chr1:55038842-55347867)x3	MROH7, ACOT11 +6 more	Copy number gain	not provided	GLikely benign
Select item 565099	GRCh37/hg19 1p32.3(chr1:55036657-55800829)x3	ACOT11, BSND +10 more	Copy number gain	not provided	GUncertain significance
Select item 565098	GRCh37/hg19 1p32.3(chr1:54575439-55381546)x1	MRPL37, TTC22 +10 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	ACOT11, BTF3L4 +42 more	Copy number loss	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59969	GRCh38/hg38 1p32.3(chr1:54207426-54756958)x1	ACOT11, FAM151A +25 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 82