ClinVar for Gene (Select 10933) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295591	NM_006791.4(MORF4L1):c.173C>T (p.Pro58Leu)	MORF4L1 (P58L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3295590	NM_006791.4(MORF4L1):c.452T>C (p.Met151Thr)	MORF4L1 (M151T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200249	NM_006791.4(MORF4L1):c.197T>C (p.Val66Ala)	MORF4L1 (V66A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200244	NM_006791.4(MORF4L1):c.156-1074C>A	MORF4L1 (P86T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200236	NM_006791.4(MORF4L1):c.156-1155C>T	MORF4L1 (R59C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684763	GRCh37/hg19 15q25.1(chr15:78939575-79274138)x3	ADAMTS7, CTSH +2 more	Copy number gain	not provided	GUncertain significance
Select item 2607842	NM_006791.4(MORF4L1):c.902A>G (p.Asn301Ser)	MORF4L1 (N301S +2 more)	Single nucleotide variant (missense variant)	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 2546125	NM_006791.4(MORF4L1):c.156-1143T>A	MORF4L1 (S63T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2545951	NM_006791.4(MORF4L1):c.28A>G (p.Lys10Glu)	MORF4L1 (K10E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 2378445	NM_006791.4(MORF4L1):c.368G>C (p.Gly123Ala)	MORF4L1 (G123A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357338	NM_006791.4(MORF4L1):c.866A>G (p.Asn289Ser)	MORF4L1 (N328S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341123	NM_006791.4(MORF4L1):c.156-1100C>G	MORF4L1 (P77R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326139	NM_006791.4(MORF4L1):c.156-1163G>C	MORF4L1 (R56T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320295	NM_006791.4(MORF4L1):c.379A>G (p.Ser127Gly)	MORF4L1 (S127G +2 more)	Single nucleotide variant (missense variant)	not specified	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 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	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 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
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
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 150994	GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3	ACSBG1, ADAMTS7 +35 more	Copy number gain	See cases	GLikely benign
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 34