Related gene-specific medical variations for Gene (Select 148398) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248027	NC_000001.10:g.(?_861322)_(879533_?)dup	SAMD11	Duplication	not provided	GUncertain significance
Select item 2994123	NM_001385641.1(SAMD11):c.2139C>T (p.Ser713=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717525	NM_001385641.1(SAMD11):c.2064G>A (p.Gly688=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538497	NM_001385641.1(SAMD11):c.2098C>T (p.Pro700Ser)	LOC129929063, SAMD11 (P537S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2122693	NM_001385641.1(SAMD11):c.2105A>T (p.Asp702Val)	LOC129929063, SAMD11 (D539V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118083	NM_001385641.1(SAMD11):c.2055C>T (p.Gly685=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106560	NM_001385641.1(SAMD11):c.2093C>T (p.Pro698Leu)	LOC129929063, SAMD11 (P698L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099843	NM_001385641.1(SAMD11):c.2054-16_2054-15del	LOC129929063, SAMD11	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2049598	NM_001385641.1(SAMD11):c.2066G>A (p.Gly689Glu)	LOC129929063, SAMD11 (G526E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008686	NM_001385641.1(SAMD11):c.2054-15C>G	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993738	NM_001385641.1(SAMD11):c.2060T>A (p.Val687Glu)	LOC129929063, SAMD11 (V687E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967874	NM_001385641.1(SAMD11):c.2107G>A (p.Val703Ile)	LOC129929063, SAMD11 (V540I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960063	NM_001385641.1(SAMD11):c.2115G>T (p.Lys705Asn)	LOC129929063, SAMD11 (K542N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959518	NM_001385641.1(SAMD11):c.2121C>A (p.Thr707=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953248	NM_001385641.1(SAMD11):c.2145G>T (p.Val715=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938492	NM_001385641.1(SAMD11):c.2054-14G>A	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935533	NM_001385641.1(SAMD11):c.2150G>A (p.Gly717Asp)	LOC129929063, SAMD11 (G554D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929835	NM_001385641.1(SAMD11):c.2054-15C>T	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1633045	NM_001385641.1(SAMD11):c.2054-11C>T	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1611556	NM_001385641.1(SAMD11):c.2054-19A>G	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568654	NM_001385641.1(SAMD11):c.2148G>A (p.Gly716=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558688	NM_001385641.1(SAMD11):c.2070C>A (p.Leu690=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554545	NM_001385641.1(SAMD11):c.2100T>G (p.Pro700=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507899	NM_001385641.1(SAMD11):c.2065G>A (p.Gly689Arg)	LOC129929063, SAMD11 (G690R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495511	NM_001385641.1(SAMD11):c.2088G>T (p.Glu696Asp)	LOC129929063, SAMD11 (E696D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492320	NM_001385641.1(SAMD11):c.2059G>A (p.Val687Ile)	LOC129929063, SAMD11 (V687I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487212	NM_001385641.1(SAMD11):c.2078A>T (p.Asp693Val)	LOC129929063, SAMD11 (D694V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486500	NM_001385641.1(SAMD11):c.2081G>A (p.Gly694Glu)	LOC129929063, SAMD11 (G531E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441150	NM_001385641.1(SAMD11):c.2092C>T (p.Pro698Ser)	LOC129929063, SAMD11 (P699S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422736	NM_001385641.1(SAMD11):c.2150dup (p.Leu718fs)	LOC129929063, SAMD11 (L555fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1379099	NM_001385641.1(SAMD11):c.2143G>T (p.Val715Leu)	LOC129929063, SAMD11 (V715L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358126	NM_001385641.1(SAMD11):c.2075T>G (p.Met692Arg)	LOC129929063, SAMD11 (M692R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169239	NM_001385641.1(SAMD11):c.2130C>T (p.Asp710=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	SAMD11-related disorder +1 more	GBenign/Likely benign
Select item 1160599	NM_001385641.1(SAMD11):c.2064G>C (p.Gly688=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1151058	NM_001385641.1(SAMD11):c.2074A>G (p.Met692Val)	LOC129929063, SAMD11 (M529V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1132918	NM_001385641.1(SAMD11):c.2142C>T (p.Phe714=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1105443	NM_001385641.1(SAMD11):c.2152C>T (p.Leu718=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102538	NM_001385641.1(SAMD11):c.2154G>C (p.Leu718=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1097472	NM_001385641.1(SAMD11):c.2091C>T (p.Ala697=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1094940	NM_001385641.1(SAMD11):c.2054-11C>G	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1089742	NM_001385641.1(SAMD11):c.2085G>A (p.Glu695=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	SAMD11-related disorder +1 more	GLikely benign
Select item 1084883	NM_001385641.1(SAMD11):c.2133C>T (p.Val711=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084388	NM_001385641.1(SAMD11):c.2097C>T (p.Ala699=)	SAMD11, LOC129929063	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079451	NM_001385641.1(SAMD11):c.2112C>T (p.Thr704=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1051947	NM_001385641.1(SAMD11):c.2080G>A (p.Gly694Arg)	SAMD11, LOC129929063 (G531R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020249	NM_001385641.1(SAMD11):c.2054-1G>T	LOC129929063, SAMD11	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1014818	NM_001385641.1(SAMD11):c.2072C>T (p.Ser691Phe)	SAMD11, LOC129929063 (S528F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1011134	NM_001385641.1(SAMD11):c.2113A>G (p.Lys705Glu)	LOC129929063, SAMD11 (K542E +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1004565	NM_001385641.1(SAMD11):c.2079T>G (p.Asp693Glu)	LOC129929063, SAMD11 (D530E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000318	NM_001385641.1(SAMD11):c.2126A>G (p.Asp709Gly)	LOC129929063, SAMD11 (D546G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961290	NM_001385641.1(SAMD11):c.2145G>A (p.Val715=)	SAMD11, LOC129929063	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 960978	NM_001385641.1(SAMD11):c.2054-3C>T	LOC129929063, SAMD11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 956878	NM_001385641.1(SAMD11):c.2156C>T (p.Ser719Phe)	LOC129929063, SAMD11 (S556F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943368	NM_001385641.1(SAMD11):c.2084AGG[1] (p.Glu696del)	LOC129929063, SAMD11 (E533del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 941103	NM_001385641.1(SAMD11):c.2114A>C (p.Lys705Thr)	LOC129929063, SAMD11 (K542T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 394469	GRCh37/hg19 1p36.33(chr1:803989-866414)x3	SAMD11	Copy number gain	See cases	GBenign

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Links from Gene

Items: 56