9378[HGNC] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 2284549	NM_006253.5(PRKAB1):c.117C>G (p.Asp39Glu)	LOC130008908, PRKAB1 (D39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238280	NM_006253.5(PRKAB1):c.136C>T (p.Leu46Phe)	LOC130008908, PRKAB1 (L46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338838	NM_006253.5(PRKAB1):c.223G>T (p.Ala75Ser)	PRKAB1 (A75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218701	NM_006253.5(PRKAB1):c.233G>A (p.Arg78Gln)	PRKAB1 (R78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218702	NM_006253.5(PRKAB1):c.239C>T (p.Thr80Met)	PRKAB1 (T80M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790130	NM_006253.5(PRKAB1):c.255G>A (p.Thr85=)	PRKAB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3218703	NM_006253.5(PRKAB1):c.259G>A (p.Gly87Ser)	PRKAB1 (G87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309931	NM_006253.5(PRKAB1):c.262G>A (p.Gly88Arg)	PRKAB1 (G88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309930	NM_006253.5(PRKAB1):c.401C>T (p.Thr134Met)	PRKAB1 (T134M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218704	NM_006253.5(PRKAB1):c.419C>T (p.Pro140Leu)	PRKAB1 (P140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530186	NM_006253.5(PRKAB1):c.473C>G (p.Thr158Ser)	PRKAB1 (T158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218705	NM_006253.5(PRKAB1):c.502G>C (p.Val168Leu)	PRKAB1 (V168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309929	NM_006253.5(PRKAB1):c.577G>A (p.Val193Ile)	PRKAB1 (V193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268923	NM_006253.5(PRKAB1):c.602G>C (p.Arg201Pro)	PRKAB1 (R201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
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

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Items: 25