ClinVar for Gene (Select 506) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3131671	NM_001686.4(ATP5F1B):c.83C>T (p.Pro28Leu)	ATP5F1B (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131670	NM_001686.4(ATP5F1B):c.752T>C (p.Ile251Thr)	ATP5F1B (I251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131669	NM_001686.4(ATP5F1B):c.73T>C (p.Ser25Pro)	ATP5F1B (S25P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131668	NM_001686.4(ATP5F1B):c.59T>A (p.Leu20His)	ATP5F1B (L20H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131667	NM_001686.4(ATP5F1B):c.394A>G (p.Ile132Val)	ATP5F1B (I132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131666	NM_001686.4(ATP5F1B):c.314A>T (p.Glu105Val)	ATP5F1B (E105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131665	NM_001686.4(ATP5F1B):c.242C>T (p.Pro81Leu)	ATP5F1B (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131664	NM_001686.4(ATP5F1B):c.227A>T (p.Asp76Val)	ATP5F1B (D76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131663	NM_001686.4(ATP5F1B):c.1580A>G (p.His527Arg)	ATP5F1B (H527R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131662	NM_001686.4(ATP5F1B):c.1575A>T (p.Glu525Asp)	ATP5F1B (E525D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131661	NM_001686.4(ATP5F1B):c.1535C>A (p.Pro512His)	ATP5F1B (P512H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131660	NM_001686.4(ATP5F1B):c.152C>T (p.Ser51Phe)	ATP5F1B (S51F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131659	NM_001686.4(ATP5F1B):c.1479G>T (p.Gln493His)	ATP5F1B (Q493H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131658	NM_001686.4(ATP5F1B):c.1380A>G (p.Ile460Met)	ATP5F1B (I460M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131656	NM_001686.4(ATP5F1B):c.137A>G (p.Tyr46Cys)	ATP5F1B (Y46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131655	NM_001686.4(ATP5F1B):c.109C>G (p.Pro37Ala)	ATP5F1B (P37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131654	NM_001686.4(ATP5F1B):c.1078A>G (p.Ile360Val)	ATP5F1B (I360V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068970	NM_001686.4(ATP5F1B):c.1344G>T (p.Glu448Asp)	ATP5F1B (E448D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530472	NM_001686.4(ATP5F1B):c.494C>G (p.Pro165Arg)	ATP5F1B (P165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489109	NM_001686.4(ATP5F1B):c.175G>A (p.Ala59Thr)	ATP5F1B (A59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 1699953	NM_001686.4(ATP5F1B):c.1004T>C (p.Leu335Pro)	ATP5F1B (L335P)	Single nucleotide variant (missense variant)	Hypermetabolism due to Defect in Mitochondrial Coupling	GPathogenic
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 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 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: 28