26075[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 3212866	NM_017916.3(PIH1D1):c.835T>G (p.Leu279Val)	PIH1D1 (L279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491761	NM_017916.3(PIH1D1):c.791A>C (p.Asn264Thr)	PIH1D1 (N264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237906	NM_017916.3(PIH1D1):c.786G>T (p.Gln262His)	PIH1D1 (Q262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212865	NM_017916.3(PIH1D1):c.784C>A (p.Gln262Lys)	PIH1D1 (Q262K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544679	NM_017916.3(PIH1D1):c.728G>A (p.Arg243His)	PIH1D1 (R243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392115	NM_017916.3(PIH1D1):c.584C>T (p.Thr195Met)	PIH1D1 (T195M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212864	NM_017916.3(PIH1D1):c.553C>T (p.Pro185Ser)	PIH1D1 (P185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341519	NM_017916.3(PIH1D1):c.530A>G (p.Gln177Arg)	PIH1D1 (Q177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511814	NM_017916.3(PIH1D1):c.503G>A (p.Arg168Gln)	PIH1D1 (R168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217860	NM_017916.3(PIH1D1):c.488G>A (p.Arg163His)	PIH1D1 (R163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544774	NM_017916.3(PIH1D1):c.443A>T (p.Glu148Val)	PIH1D1 (E148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535087	NM_017916.3(PIH1D1):c.433A>T (p.Ile145Phe)	PIH1D1 (I145F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615699	NM_017916.3(PIH1D1):c.362A>C (p.Asp121Ala)	PIH1D1 (D121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536118	NM_017916.3(PIH1D1):c.323C>A (p.Ala108Glu)	PIH1D1 (A108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212863	NM_017916.3(PIH1D1):c.296T>C (p.Ile99Thr)	PIH1D1 (I99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319833	NM_017916.3(PIH1D1):c.250G>A (p.Glu84Lys)	PIH1D1 (E84K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306530	NM_017916.3(PIH1D1):c.247G>A (p.Glu83Lys)	PIH1D1 (E83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618024	NM_017916.3(PIH1D1):c.212A>G (p.His71Arg)	PIH1D1 (H71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212862	NM_017916.3(PIH1D1):c.133T>A (p.Ser45Thr)	PIH1D1 (S45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32