SAMD7[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3316103	NM_001304366.2(SAMD7):c.179T>C (p.Met60Thr)	SAMD7 (M60T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3062149	NM_001304366.2(SAMD7):c.290+1G>A	SAMD7	Single nucleotide variant (splice donor variant)	MACULAR DYSTROPHY WITH CONE DYSFUNCTION	GPathogenic
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 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 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 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 3316105	NM_001304366.2(SAMD7):c.518T>G (p.Phe173Cys)	SAMD7 (F173C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3316106	NM_001304366.2(SAMD7):c.605A>G (p.Lys202Arg)	SAMD7 (K202R)	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 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 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 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 3062150	NM_001304366.2(SAMD7):c.919+1G>A	SAMD7	Single nucleotide variant (splice donor variant)	MACULAR DYSTROPHY WITH CONE DYSFUNCTION	GPathogenic
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 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 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 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 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 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 2539069	NM_001304366.2(SAMD7):c.1318G>A (p.Glu440Lys)	SAMD7 (E440K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 26