ClinVar for Gene (Select 130003374) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2964083	NM_006214.4(PHYH):c.57_67del (p.Pro20fs)	LOC130003374, PHYH (P20fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2910919	NM_006214.4(PHYH):c.24C>G (p.Ala8=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902940	NM_006214.4(PHYH):c.48C>T (p.His16=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874704	NM_006214.4(PHYH):c.57C>T (p.Arg19=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860684	NM_006214.4(PHYH):c.54C>G (p.Gly18=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856456	NM_006214.4(PHYH):c.25_32del (p.Arg9fs)	LOC130003374, PHYH (R9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2836349	NM_006214.4(PHYH):c.69G>T (p.Gly23=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783545	NM_006214.4(PHYH):c.75+13C>T	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714772	NM_006214.4(PHYH):c.66C>A (p.Ala22=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2677760	NM_006214.4(PHYH):c.50dup (p.Gly18fs)	LOC130003374, PHYH (G18fs)	Duplication (frameshift variant)	Phytanic acid storage disease	GLikely pathogenic
Select item 2171805	NM_006214.4(PHYH):c.70G>T (p.Ala24Ser)	LOC130003374, PHYH (A24S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162280	NM_006214.4(PHYH):c.32A>C (p.Gln11Pro)	LOC130003374, PHYH (Q11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140149	NM_006214.4(PHYH):c.2T>C (p.Met1Thr)	LOC130003374, PHYH (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125512	NM_006214.4(PHYH):c.55C>A (p.Arg19Ser)	LOC130003374, PHYH (R19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975470	NM_006214.4(PHYH):c.75C>A (p.Val25=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1974166	NM_006214.4(PHYH):c.42G>A (p.Leu14=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916732	NM_006214.4(PHYH):c.21C>G (p.Ala7=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898134	NM_006214.4(PHYH):c.37G>T (p.Val13Phe)	LOC130003374, PHYH (V13F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627276	NM_006214.4(PHYH):c.45C>T (p.Gly15=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577705	NM_006214.4(PHYH):c.40C>T (p.Leu14=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1548534	NM_006214.4(PHYH):c.69G>C (p.Gly23=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509953	NM_006214.4(PHYH):c.4G>C (p.Glu2Gln)	LOC130003374, PHYH (E2Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495661	NM_006214.4(PHYH):c.25C>G (p.Arg9Gly)	LOC130003374, PHYH (R9G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482969	NM_006214.4(PHYH):c.75+1G>T	LOC130003374, PHYH	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1474247	NM_006214.4(PHYH):c.1A>T (p.Met1Leu)	LOC130003374, PHYH (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1465110	NM_006214.4(PHYH):c.13C>T (p.Arg5Cys)	LOC130003374, PHYH (R5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1454975	NM_006214.4(PHYH):c.42_60dup (p.Ser21fs)	LOC130003374, PHYH (S21fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1397156	NM_006214.4(PHYH):c.75+19G>A	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295419	NM_006214.4(PHYH):c.75+237T>C	LOC130003374, PHYH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1295416	NM_006214.4(PHYH):c.75+132C>G	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266099	NM_006214.4(PHYH):c.75+68T>C	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252681	NM_006214.4(PHYH):c.75+79G>C	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249208	NM_006214.4(PHYH):c.75+159A>C	LOC130003374, PHYH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1115167	NM_006214.4(PHYH):c.69G>A (p.Gly23=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 971436	NM_006214.4(PHYH):c.19G>A (p.Ala7Thr)	LOC130003374, PHYH (A7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 796296	NM_006214.4(PHYH):c.51C>T (p.Leu17=)	LOC130003374, PHYH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 555188	NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup)	LOC130003374, PHYH	Duplication (inframe_insertion +1 more)	Phytanic acid storage disease	GUncertain significance
Select item 299263	NM_006214.4(PHYH):c.-20G>C	LOC130003374, PHYH	Single nucleotide variant (5 prime UTR variant)	Phytanic acid storage disease	GUncertain significance
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 144993	GRCh38/hg38 10p13(chr10:12333253-13948472)x1	BEND7, BEND7-DT +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 46