ClinVar for Gene (Select 121214) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339848	NM_148897.3(SDR9C7):c.301+4G>A	SDR9C7	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339841	NM_148897.3(SDR9C7):c.301+6G>A	SDR9C7	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3336407	NM_148897.3(SDR9C7):c.826C>T (p.Arg276Cys)	SDR9C7 (R276C)	Single nucleotide variant (missense variant)	Lamellar ichthyosis	GPathogenic
Select item 3316997	NM_148897.3(SDR9C7):c.903C>G (p.Ile301Met)	SDR9C7 (I301M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316996	NM_148897.3(SDR9C7):c.835C>A (p.Pro279Thr)	SDR9C7 (P279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3159078	NM_148897.3(SDR9C7):c.683A>G (p.Gln228Arg)	SDR9C7 (Q228R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159077	NM_148897.3(SDR9C7):c.32A>G (p.Tyr11Cys)	SDR9C7 (Y11C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159076	NM_148897.3(SDR9C7):c.295G>A (p.Glu99Lys)	SDR9C7 (E99K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159075	NM_148897.3(SDR9C7):c.268G>A (p.Ala90Thr)	SDR9C7 (A90T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159074	NM_148897.3(SDR9C7):c.142C>T (p.Arg48Trp)	SDR9C7 (R48W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046354	NM_148897.3(SDR9C7):c.301+7C>T	SDR9C7	Single nucleotide variant (intron variant)	SDR9C7-related disorder	GLikely benign
Select item 2895346	NM_148897.3(SDR9C7):c.519C>T (p.Cys173=)	SDR9C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751242	NM_148897.3(SDR9C7):c.502A>G (p.Ile168Val)	SDR9C7 (I168V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2696984	NM_148897.3(SDR9C7):c.630C>T (p.Leu210=)	SDR9C7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2662892	NM_148897.3(SDR9C7):c.499G>A (p.Val167Ile)	SDR9C7 (V167I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2617705	NM_148897.3(SDR9C7):c.35G>A (p.Arg12His)	SDR9C7 (R12H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605926	NM_148897.3(SDR9C7):c.354C>A (p.Asn118Lys)	SDR9C7 (N118K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596924	NM_148897.3(SDR9C7):c.802A>G (p.Ile268Val)	SDR9C7 (I268V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2591625	NM_148897.3(SDR9C7):c.812G>A (p.Arg271Gln)	SDR9C7 (R271Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591421	NM_148897.3(SDR9C7):c.34C>T (p.Arg12Cys)	SDR9C7 (R12C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531921	NM_148897.3(SDR9C7):c.53A>G (p.Asn18Ser)	SDR9C7 (N18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528507	NM_148897.3(SDR9C7):c.29T>C (p.Met10Thr)	SDR9C7 (M10T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2478550	NM_148897.3(SDR9C7):c.323A>G (p.Asn108Ser)	SDR9C7 (N108S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472075	NM_148897.3(SDR9C7):c.622G>C (p.Ala208Pro)	SDR9C7 (A208P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2417673	NM_148897.3(SDR9C7):c.82G>A (p.Val28Ile)	SDR9C7 (V28I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2380999	NM_148897.3(SDR9C7):c.449G>A (p.Arg150Lys)	SDR9C7 (R150K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2352605	NM_148897.3(SDR9C7):c.652C>T (p.Arg218Cys)	SDR9C7 (R218C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298020	NM_148897.3(SDR9C7):c.675G>C (p.Arg225Ser)	SDR9C7 (R225S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288594	NM_148897.3(SDR9C7):c.176A>C (p.Glu59Ala)	SDR9C7 (E59A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279524	NM_148897.3(SDR9C7):c.833A>G (p.Asn278Ser)	SDR9C7 (N278S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277974	NM_148897.3(SDR9C7):c.821G>A (p.Arg274His)	SDR9C7 (R274H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245877	NM_148897.3(SDR9C7):c.406G>A (p.Gly136Arg)	SDR9C7 (G136R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226865	NM_148897.3(SDR9C7):c.254G>A (p.Ser85Asn)	SDR9C7 (S85N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214473	NM_148897.3(SDR9C7):c.535G>A (p.Val179Ile)	SDR9C7 (V179I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200739	NM_148897.3(SDR9C7):c.520G>A (p.Val174Ile)	SDR9C7 (V174I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180615	NM_148897.3(SDR9C7):c.711T>A (p.Asp237Glu)	SDR9C7 (D237E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085552	NM_148897.3(SDR9C7):c.454C>T (p.Arg152Trp)	SDR9C7 (R152W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044296	NM_148897.3(SDR9C7):c.839G>A (p.Gly280Asp)	SDR9C7 (G280D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929901	NM_148897.3(SDR9C7):c.679C>T (p.Pro227Ser)	SDR9C7 (P227S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804857	NM_148897.3(SDR9C7):c.888del (p.Pro296_Val297insTer)	SDR9C7	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1800781	NM_148897.3(SDR9C7):c.200G>A (p.Arg67Gln)	SDR9C7 (R67Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1800780	NM_148897.3(SDR9C7):c.718C>T (p.Arg240Cys)	SDR9C7 (R240C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1711344	NM_148897.3(SDR9C7):c.363G>A (p.Leu121=)	SDR9C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1698200	NM_148897.3(SDR9C7):c.691C>T (p.Arg231Trp)	SDR9C7 (R231W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1696023	NM_148897.3(SDR9C7):c.215G>A (p.Arg72Gln)	SDR9C7 (R72Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1668923	NM_148897.3(SDR9C7):c.55C>G (p.Leu19Val)	SDR9C7 (L19V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1601750	NM_148897.3(SDR9C7):c.528G>A (p.Lys176=)	SDR9C7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1600668	NM_148897.3(SDR9C7):c.492T>C (p.Arg164=)	SDR9C7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1397352	NM_148897.3(SDR9C7):c.820C>T (p.Arg274Cys)	SDR9C7 (R274C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382665	NM_148897.3(SDR9C7):c.874_875dup (p.Leu293fs)	SDR9C7 (L293fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1343045	NM_148897.3(SDR9C7):c.834C>A (p.Asn278Lys)	SDR9C7 (N278K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1310088	NM_148897.3(SDR9C7):c.699C>G (p.Ser233Arg)	SDR9C7 (S233R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303869	NM_148897.3(SDR9C7):c.415G>A (p.Glu139Lys)	SDR9C7 (E139K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285439	NM_148897.3(SDR9C7):c.491G>A (p.Arg164His)	SDR9C7 (R164H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1237568	NM_148897.3(SDR9C7):c.561-186T>C	SDR9C7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220183	NM_148897.3(SDR9C7):c.562C>T (p.Arg188Cys)	SDR9C7 (R188C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 807680	NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly)	SDR9C7 (D184G)	Single nucleotide variant (missense variant)	Lamellar ichthyosis +2 more	GConflicting classifications of pathogenicity
Select item 799773	NM_148897.3(SDR9C7):c.702C>T (p.Tyr234=)	SDR9C7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781081	NM_148897.3(SDR9C7):c.659G>A (p.Arg220Gln)	SDR9C7 (R220Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776722	NM_148897.3(SDR9C7):c.692G>A (p.Arg231Gln)	SDR9C7 (R231Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687417	GRCh37/hg19 12q13.3(chr12:57218243-57347222)x1	RDH16, SDR9C7	Copy number loss	not provided	GUncertain significance
Select item 633815	NM_148897.3(SDR9C7):c.355G>A (p.Glu119Lys)	SDR9C7 (E119K)	Single nucleotide variant (missense variant)	Congenital ichthyosis of skin	GLikely pathogenic
Select item 633814	NM_148897.3(SDR9C7):c.112G>A (p.Gly38Arg)	SDR9C7 (G38R)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 13 +2 more	GConflicting classifications of pathogenicity
Select item 520397	NM_148897.3(SDR9C7):c.364dup (p.Thr122fs)	SDR9C7 (T122fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 488591	NM_148897.3(SDR9C7):c.658C>T (p.Arg220Ter)	SDR9C7 (R220*)	Single nucleotide variant (nonsense)	Congenital ichthyosis of skin +2 more	GPathogenic
Select item 451502	NM_148897.3(SDR9C7):c.1A>G (p.Met1Val)	SDR9C7 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 430712	NM_148897.3(SDR9C7):c.214C>T (p.Arg72Trp)	SDR9C7 (R72W)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 13	GPathogenic
Select item 430711	NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr)	SDR9C7 (I200T)	Single nucleotide variant (missense variant)	Ichthyosis, congenital, autosomal recessive 13 +2 more	GPathogenic/Likely pathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 75