7437[HGNC] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 58354	GRCh38/hg38 15q25.1(chr15:79552851-80526230)x3	ARNT2, ARNT2-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 2105480	NM_006441.4(MTHFS):c.605C>T (p.Thr202Ile)	ST20-MTHFS, MTHFS (T202I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2038284	NM_006441.4(MTHFS):c.604A>G (p.Thr202Ala)	MTHFS, ST20-MTHFS (T178A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2169809	NM_006441.4(MTHFS):c.592G>A (p.Glu198Lys)	ST20-MTHFS, MTHFS (E141K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1974883	NM_006441.4(MTHFS):c.565G>A (p.Asp189Asn)	MTHFS, ST20-MTHFS (D132N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915576	NM_006441.4(MTHFS):c.564C>T (p.Asn188=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2766468	NM_006441.4(MTHFS):c.516G>C (p.Ala172=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 522830	NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter)	MTHFS, ST20-MTHFS (Q105* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	GLikely pathogenic
Select item 522831	NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln)	MTHFS, ST20-MTHFS (R145Q +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination +1 more	GConflicting classifications of pathogenicity
Select item 787962	NM_006441.4(MTHFS):c.420C>T (p.Asp140=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2053567	NM_006441.4(MTHFS):c.380-5C>T	MTHFS, ST20-MTHFS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2076613	NM_006441.4(MTHFS):c.378A>G (p.Thr126=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2064299	NM_006441.4(MTHFS):c.377C>T (p.Thr126Ile)	MTHFS, ST20-MTHFS (T102I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093033	NM_006441.4(MTHFS):c.359G>A (p.Arg120Gln)	MTHFS, ST20-MTHFS (R96Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069160	NM_006441.4(MTHFS):c.355G>C (p.Val119Leu)	MTHFS, ST20-MTHFS (V119L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2172346	NM_006441.4(MTHFS):c.335C>T (p.Pro112Leu)	MTHFS, ST20-MTHFS (P88L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054000	NM_006441.4(MTHFS):c.320C>T (p.Thr107Ile)	MTHFS, ST20-MTHFS (T50I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1344538	NM_006441.4(MTHFS):c.316A>T (p.Lys106Ter)	MTHFS, ST20-MTHFS (K106* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	GPathogenic
Select item 2156507	NM_006441.4(MTHFS):c.293C>T (p.Pro98Leu)	MTHFS, ST20-MTHFS (P98L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1974427	NM_006441.4(MTHFS):c.283A>G (p.Ile95Val)	MTHFS, ST20-MTHFS (I95V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072759	NM_006441.4(MTHFS):c.251G>A (p.Arg84Gln)	MTHFS, ST20-MTHFS (R27Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2073895	NM_006441.4(MTHFS):c.250C>T (p.Arg84Trp)	ST20-MTHFS, MTHFS (R60W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2471388	NM_006441.4(MTHFS):c.245G>A (p.Arg82Gln)	MTHFS, ST20-MTHFS (R82Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1976175	NM_006441.4(MTHFS):c.244C>T (p.Arg82Trp)	MTHFS, ST20-MTHFS (R25W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2420564	NM_006441.4(MTHFS):c.220C>T (p.Arg74Ter)	MTHFS, ST20-MTHFS (R17* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1914723	NM_006441.4(MTHFS):c.172A>G (p.Met58Val)	MTHFS, ST20-MTHFS (M58V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2144957	NM_006441.4(MTHFS):c.150A>G (p.Lys50=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2130630	NM_006441.4(MTHFS):c.118-18C>T	MTHFS, ST20-MTHFS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973992	NM_006441.4(MTHFS):c.117+12C>T	MTHFS, ST20-MTHFS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1675582	NM_006441.4(MTHFS):c.117+7G>C	MTHFS, ST20-MTHFS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 624594	NM_006441.4(MTHFS):c.107T>C (p.Leu36Pro)	MTHFS, ST20-MTHFS (L36P)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	GPathogenic
Select item 1050731	NM_006441.4(MTHFS):c.104T>C (p.Val35Ala)	MTHFS, ST20-MTHFS (V35A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2037477	NM_006441.4(MTHFS):c.101G>T (p.Arg34Leu)	MTHFS, ST20-MTHFS (R34L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2488857	NM_006441.4(MTHFS):c.95A>T (p.Gln32Leu)	MTHFS, ST20-MTHFS (Q32L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2055072	NM_006441.4(MTHFS):c.88C>T (p.Leu30=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2071608	NM_006441.4(MTHFS):c.84G>A (p.Glu28=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2021495	NM_006441.4(MTHFS):c.76G>A (p.Ala26Thr)	MTHFS, ST20-MTHFS (A26T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2022150	NM_006441.4(MTHFS):c.71T>C (p.Met24Thr)	ST20-MTHFS, MTHFS (M24T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1298631	NM_006441.4(MTHFS):c.54G>A (p.Lys18=)	MTHFS, ST20-MTHFS	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2067208	NM_006441.4(MTHFS):c.36C>A (p.Ser12Arg)	MTHFS, ST20-MTHFS (S12R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2428651	NM_006441.4(MTHFS):c.35G>A (p.Ser12Asn)	MTHFS, ST20-MTHFS (S12N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1305517	NM_006441.4(MTHFS):c.35G>T (p.Ser12Ile)	MTHFS, ST20-MTHFS (S12I)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1995722	NM_006441.4(MTHFS):c.28A>C (p.Lys10Gln)	MTHFS, ST20-MTHFS (K10Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2875670	NM_006441.4(MTHFS):c.10_25dup (p.Ala9fs)	MTHFS, ST20-MTHFS (A9fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2332611	NM_006441.4(MTHFS):c.22A>G (p.Ser8Gly)	MTHFS, ST20-MTHFS (S8G)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2038995	NM_006441.4(MTHFS):c.14C>T (p.Ala5Val)	MTHFS, ST20-MTHFS (A5V)	Single nucleotide variant (missense variant +2 more)	MTHFS-related disorder +1 more	GBenign
Select item 2459765	NM_006441.4(MTHFS):c.13G>T (p.Ala5Ser)	MTHFS, ST20-MTHFS (A5S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	CHRNB4, CTSH +19 more	Duplication	not provided	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1807897	GRCh37/hg19 15q25.1-25.2(chr15:79996626-82097796)x1	ABHD17C, ARNT2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 980537	GRCh37/hg19 15q25.1(chr15:79679772-80383301)x3	MINAR1, MTHFS +4 more	Copy number gain	not provided	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394781	GRCh37/hg19 15q25.1(chr15:79755580-80159956)x1	MTHFS, ST20-MTHFS +1 more	Copy number loss	See cases	GLikely benign
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 69