PANK4[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304189	NM_018216.4(PANK4):c.2279G>A (p.Arg760Gln)	PANK4 (R760Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304191	NM_018216.4(PANK4):c.2216G>A (p.Arg739His)	PANK4 (R739H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638085	NM_018216.4(PANK4):c.2205C>T (p.His735=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337299	NM_018216.4(PANK4):c.2156A>T (p.Asp719Val)	PANK4 (D719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358333	NM_018216.4(PANK4):c.2101G>A (p.Asp701Asn)	PANK4 (D701N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354102	NM_018216.4(PANK4):c.2035G>T (p.Val679Leu)	PANK4 (V679L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228216	NM_018216.4(PANK4):c.2035G>A (p.Val679Met)	PANK4 (V679M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207349	NM_018216.4(PANK4):c.2018C>T (p.Ala673Val)	PANK4 (A673V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609198	NM_018216.4(PANK4):c.1930G>C (p.Gly644Arg)	PANK4 (G644R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508427	NM_018216.4(PANK4):c.1921C>G (p.Leu641Val)	PANK4 (L641V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208345	NM_018216.4(PANK4):c.1913G>A (p.Arg638Lys)	PANK4 (R638K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286689	NM_018216.4(PANK4):c.1849T>G (p.Cys617Gly)	PANK4 (C617G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304188	NM_018216.4(PANK4):c.1717G>A (p.Ala573Thr)	PANK4 (A573T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208344	NM_018216.4(PANK4):c.1702G>A (p.Asp568Asn)	PANK4 (D568N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228861	NM_018216.4(PANK4):c.1646G>A (p.Gly549Asp)	PANK4 (G549D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2585653	NM_018216.4(PANK4):c.1640C>T (p.Ala547Val)	PANK4 (A547V)	Single nucleotide variant (missense variant)	Cataract 49	GBenign
Select item 2617122	NM_018216.4(PANK4):c.1639G>T (p.Ala547Ser)	PANK4 (A547S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208343	NM_018216.4(PANK4):c.1628G>A (p.Arg543His)	PANK4 (R543H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208342	NM_018216.4(PANK4):c.1627C>T (p.Arg543Cys)	PANK4 (R543C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387571	NM_018216.4(PANK4):c.1597G>A (p.Val533Met)	PANK4 (V533M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250774	NM_018216.4(PANK4):c.1469C>T (p.Thr490Ile)	PANK4 (T490I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529460	NM_018216.4(PANK4):c.1318G>A (p.Asp440Asn)	PANK4 (D440N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638086	NM_018216.4(PANK4):c.1293C>T (p.Tyr431=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638087	NM_018216.4(PANK4):c.1284G>A (p.Pro428=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258577	NM_018216.4(PANK4):c.1208G>A (p.Arg403Gln)	PANK4 (R403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589562	NM_018216.4(PANK4):c.1202G>A (p.Arg401Gln)	PANK4 (R401Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208341	NM_018216.4(PANK4):c.1193C>T (p.Pro398Leu)	PANK4 (P398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354180	NM_018216.4(PANK4):c.1192C>A (p.Pro398Thr)	PANK4 (P398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344173	NM_018216.4(PANK4):c.1168A>T (p.Met390Leu)	PANK4 (M390L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208349	NM_018216.4(PANK4):c.953G>A (p.Arg318His)	PANK4 (R318H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336602	NM_018216.4(PANK4):c.847G>A (p.Asp283Asn)	PANK4 (D283N)	Single nucleotide variant (missense variant)	Cataract 49	GUncertain significance
Select item 2219771	NM_018216.4(PANK4):c.836C>G (p.Ser279Trp)	PANK4 (S279W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638088	NM_018216.4(PANK4):c.795C>T (p.Leu265=)	PANK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3304192	NM_018216.4(PANK4):c.781G>T (p.Ala261Ser)	PANK4 (A261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606302	NM_018216.4(PANK4):c.746A>G (p.Asn249Ser)	PANK4 (N249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547522	NM_018216.4(PANK4):c.713T>C (p.Leu238Pro)	PANK4 (L238P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301909	NM_018216.4(PANK4):c.607-53G>A	PANK4	Single nucleotide variant (intron variant)	Cataract 49	GPathogenic
Select item 3304190	NM_018216.4(PANK4):c.601G>T (p.Val201Leu)	PANK4 (V201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408129	NM_018216.4(PANK4):c.580A>G (p.Ile194Val)	PANK4 (I194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235940	NM_018216.4(PANK4):c.490C>A (p.His164Asn)	PANK4 (H164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214686	NM_018216.4(PANK4):c.472G>A (p.Val158Met)	PANK4 (V158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286074	NM_018216.4(PANK4):c.415C>T (p.Arg139Trp)	PANK4 (R139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2585654	NM_018216.4(PANK4):c.393A>G (p.Lys131=)	PANK4	Single nucleotide variant (synonymous variant)	Cataract 49	GBenign
Select item 3208348	NM_018216.4(PANK4):c.344C>G (p.Thr115Arg)	PANK4 (T115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472218	NM_018216.4(PANK4):c.296C>T (p.Thr99Ile)	PANK4 (T99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304193	NM_018216.4(PANK4):c.230C>T (p.Pro77Leu)	PANK4 (P77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208346	NM_018216.4(PANK4):c.214G>C (p.Glu72Gln)	PANK4 (E72Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264048	NM_018216.4(PANK4):c.212C>T (p.Thr71Ile)	PANK4 (T71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495701	NM_018216.4(PANK4):c.203G>T (p.Gly68Val)	PANK4 (G68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244391	NM_018216.4(PANK4):c.20G>A (p.Ser7Asn)	PANK4 (S7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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: 50