PLEKHF1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153639	GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1	C19orf12, CCNE1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 3214872	NM_024310.5(PLEKHF1):c.21C>A (p.Asn7Lys)	PLEKHF1 (N7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549257	NM_024310.5(PLEKHF1):c.21C>G (p.Asn7Lys)	PLEKHF1 (N7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769452	NM_024310.5(PLEKHF1):c.51A>G (p.Ala17=)	PLEKHF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3214878	NM_024310.5(PLEKHF1):c.74C>T (p.Ser25Leu)	PLEKHF1 (S25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543284	NM_024310.5(PLEKHF1):c.89C>T (p.Ala30Val)	PLEKHF1 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392188	NM_024310.5(PLEKHF1):c.101G>C (p.Arg34Pro)	PLEKHF1 (R34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214871	NM_024310.5(PLEKHF1):c.142A>G (p.Lys48Glu)	PLEKHF1 (K48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319038	NM_024310.5(PLEKHF1):c.214C>G (p.Arg72Gly)	PLEKHF1 (R72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214873	NM_024310.5(PLEKHF1):c.232C>A (p.His78Asn)	PLEKHF1 (H78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730019	NM_024310.5(PLEKHF1):c.244C>T (p.Leu82=)	PLEKHF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3214874	NM_024310.5(PLEKHF1):c.388G>T (p.Val130Leu)	PLEKHF1 (V130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262532	NM_024310.5(PLEKHF1):c.419C>T (p.Pro140Leu)	PLEKHF1 (P140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250741	NM_024310.5(PLEKHF1):c.436G>A (p.Ala146Thr)	PLEKHF1 (A146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777467	NM_024310.5(PLEKHF1):c.438G>A (p.Ala146=)	PLEKHF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2326898	NM_024310.5(PLEKHF1):c.460G>A (p.Ala154Thr)	PLEKHF1 (A154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223371	NM_024310.5(PLEKHF1):c.463A>T (p.Thr155Ser)	PLEKHF1 (T155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478794	NM_024310.5(PLEKHF1):c.466G>A (p.Asp156Asn)	PLEKHF1 (D156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214875	NM_024310.5(PLEKHF1):c.581C>T (p.Pro194Leu)	PLEKHF1 (P194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214876	NM_024310.5(PLEKHF1):c.589T>C (p.Ser197Pro)	PLEKHF1 (S197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333278	NM_024310.5(PLEKHF1):c.590C>T (p.Ser197Phe)	PLEKHF1 (S197F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590320	NM_024310.5(PLEKHF1):c.593C>T (p.Pro198Leu)	PLEKHF1 (P198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463339	NM_024310.5(PLEKHF1):c.598C>G (p.Pro200Ala)	PLEKHF1 (P200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214877	NM_024310.5(PLEKHF1):c.647G>C (p.Arg216Pro)	PLEKHF1 (R216P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711219	NM_024310.5(PLEKHF1):c.647G>A (p.Arg216Gln)	PLEKHF1 (R216Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2361047	NM_024310.5(PLEKHF1):c.671G>T (p.Gly224Val)	PLEKHF1 (G224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268025	NM_024310.5(PLEKHF1):c.677G>T (p.Gly226Val)	PLEKHF1 (G226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727604	NM_024310.5(PLEKHF1):c.723G>T (p.Ala241=)	PLEKHF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2350211	NM_024310.5(PLEKHF1):c.738C>G (p.Asp246Glu)	PLEKHF1 (D246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547140	NM_024310.5(PLEKHF1):c.790A>G (p.Ser264Gly)	PLEKHF1 (S264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980759	GRCh37/hg19 19q12(chr19:29739728-31053524)x3	C19orf12, CCNE1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 564604	GRCh37/hg19 19q12(chr19:29083484-31804809)x3	VSTM2B, ZNF536 +7 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443316	GRCh37/hg19 19q12(chr19:30112378-31939682)x3	C19orf12, CCNE1 +4 more	Copy number gain	See cases	GLikely pathogenic
Select item 442775	GRCh37/hg19 19q11-12(chr19:28271107-31110233)x1	C19orf12, CCNE1 +6 more	Copy number loss	See cases	GLikely pathogenic

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Items: 44