ClinVar for Gene (Select 344658) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3157700	NM_001304366.2(SAMD7):c.856A>G (p.Ile286Val)	SAMD7 (I286V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3157699	NM_001304366.2(SAMD7):c.426G>C (p.Arg142Ser)	SAMD7 (R142S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157698	NM_001304366.2(SAMD7):c.275G>A (p.Arg92Gln)	SAMD7 (R92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157697	NM_001304366.2(SAMD7):c.1302A>G (p.Ile434Met)	SAMD7 (I434M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062153	NM_001304366.2(SAMD7):c.992A>T (p.Asp331Val)	SAMD7 (D331V)	Single nucleotide variant (missense variant +1 more)	MACULAR DYSTROPHY WITH CONE DYSFUNCTION	GPathogenic
Select item 3062152	NM_001304366.2(SAMD7):c.1153G>A (p.Val385Ile)	SAMD7 (V385I)	Single nucleotide variant (missense variant +1 more)	Macular dystrophy with or without cone dysfunction	GPathogenic
Select item 3062151	NM_001304366.2(SAMD7):c.211+1G>A	SAMD7	Single nucleotide variant (splice donor variant)	Macular dystrophy with or without cone dysfunction	GPathogenic
Select item 3062150	NM_001304366.2(SAMD7):c.919+1G>A	SAMD7	Single nucleotide variant (splice donor variant)	MACULAR DYSTROPHY WITH CONE DYSFUNCTION	GPathogenic
Select item 3062149	NM_001304366.2(SAMD7):c.290+1G>A	SAMD7	Single nucleotide variant (splice donor variant)	MACULAR DYSTROPHY WITH CONE DYSFUNCTION	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2612321	NM_001304366.2(SAMD7):c.7G>A (p.Val3Met)	SAMD7 (V3M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2611773	NM_001304366.2(SAMD7):c.589G>T (p.Asp197Tyr)	SAMD7 (D197Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603820	NM_001304366.2(SAMD7):c.452A>G (p.His151Arg)	SAMD7 (H151R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546670	NM_001304366.2(SAMD7):c.29C>T (p.Thr10Ile)	SAMD7 (T10I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539069	NM_001304366.2(SAMD7):c.1318G>A (p.Glu440Lys)	SAMD7 (E440K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533405	NM_001304366.2(SAMD7):c.650C>T (p.Pro217Leu)	SAMD7 (P217L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 2411452	NM_001304366.2(SAMD7):c.514C>G (p.His172Asp)	SAMD7 (H172D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395918	NM_001304366.2(SAMD7):c.905G>A (p.Arg302Gln)	SAMD7 (R302Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375932	NM_001304366.2(SAMD7):c.1270A>T (p.Thr424Ser)	SAMD7 (T424S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340041	NM_001304366.2(SAMD7):c.775C>A (p.His259Asn)	SAMD7 (H259N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299995	NM_001304366.2(SAMD7):c.784C>G (p.Pro262Ala)	SAMD7 (P262A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278689	NM_001304366.2(SAMD7):c.1195T>C (p.Ser399Pro)	SAMD7 (S399P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253256	NM_001304366.2(SAMD7):c.1009C>G (p.Arg337Gly)	SAMD7 (R337G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239238	NM_001304366.2(SAMD7):c.410C>A (p.Ala137Asp)	SAMD7 (A137D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808209	GRCh37/hg19 3q26.2(chr3:168718767-169662001)x1	ACTRT3, LRRC31 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1390486	NC_000003.11:g.(?_169482388)_(170130102_?)dup	ACTRT3, GPR160 +10 more	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	LRRC31, MCCC1 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 48