PRICKLE4[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 3218669	NM_013397.6(PRICKLE4):c.50C>T (p.Pro17Leu)	PRICKLE4 (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218666	NM_013397.6(PRICKLE4):c.101C>T (p.Pro34Leu)	PRICKLE4 (P34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218667	NM_013397.6(PRICKLE4):c.185C>G (p.Pro62Arg)	PRICKLE4 (P62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464368	NM_013397.6(PRICKLE4):c.197G>C (p.Gly66Ala)	PRICKLE4 (G66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218668	NM_013397.6(PRICKLE4):c.223C>A (p.Pro75Thr)	PRICKLE4 (P75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337352	NM_013397.6(PRICKLE4):c.227C>T (p.Pro76Leu)	PRICKLE4 (P76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390265	NM_013397.6(PRICKLE4):c.286C>A (p.Gln96Lys)	PRICKLE4 (Q96K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619204	NM_013397.6(PRICKLE4):c.340C>G (p.Leu114Val)	PRICKLE4 (L114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306077	NM_013397.6(PRICKLE4):c.362G>A (p.Gly121Glu)	PRICKLE4 (G121E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309912	NM_013397.6(PRICKLE4):c.523C>T (p.Leu175Phe)	PRICKLE4 (L175F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244549	NM_013397.6(PRICKLE4):c.545C>T (p.Ala182Val)	PRICKLE4 (A182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614770	NM_013397.6(PRICKLE4):c.607G>A (p.Glu203Lys)	PRICKLE4 (E203K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248940	NM_013397.6(PRICKLE4):c.630T>G (p.His210Gln)	PRICKLE4 (H210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221193	NM_013397.6(PRICKLE4):c.638A>G (p.His213Arg)	PRICKLE4 (H213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598901	NM_013397.6(PRICKLE4):c.642C>G (p.Phe214Leu)	PRICKLE4 (F214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259890	NM_013397.6(PRICKLE4):c.655T>G (p.Cys219Gly)	PRICKLE4 (C219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218670	NM_013397.6(PRICKLE4):c.724G>A (p.Glu242Lys)	LOC129996432, PRICKLE4 (E242K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281523	NM_013397.6(PRICKLE4):c.773G>T (p.Gly258Val)	LOC129996432, PRICKLE4 (G258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487766	NM_013397.6(PRICKLE4):c.845C>T (p.Thr282Ile)	PRICKLE4 (T282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231736	NM_013397.6(PRICKLE4):c.877G>T (p.Gly293Cys)	PRICKLE4 (G293C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517428	NM_013397.6(PRICKLE4):c.944A>G (p.Asp315Gly)	PRICKLE4 (D315G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332725	NM_013397.6(PRICKLE4):c.1000C>T (p.Pro334Ser)	PRICKLE4 (P334S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 31