ClinVar for Gene (Select 162466) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306263	NM_178500.4(PHOSPHO1):c.49G>C (p.Gly17Arg)	PHOSPHO1 (G17R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306262	NM_178500.4(PHOSPHO1):c.46-111C>G	PHOSPHO1 (R4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306261	NM_178500.4(PHOSPHO1):c.46G>A (p.Asp16Asn)	PHOSPHO1 (D16N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3212385	NM_178500.4(PHOSPHO1):c.46-113A>G	PHOSPHO1 (Q3R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212384	NM_178500.4(PHOSPHO1):c.644C>T (p.Ala215Val)	PHOSPHO1 (A240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212383	NM_178500.4(PHOSPHO1):c.557G>A (p.Arg186His)	PHOSPHO1 (R186H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212381	NM_178500.4(PHOSPHO1):c.367G>A (p.Asp123Asn)	PHOSPHO1 (D123N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212380	NM_178500.4(PHOSPHO1):c.77G>C (p.Arg26Pro)	PHOSPHO1 (R51P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212379	NM_178500.4(PHOSPHO1):c.49G>A (p.Gly17Ser)	PHOSPHO1 (G17S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2647887	NM_178500.4(PHOSPHO1):c.402C>T (p.Arg134=)	PHOSPHO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569470	NM_178500.4(PHOSPHO1):c.500G>C (p.Ser167Thr)	PHOSPHO1 (S167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544453	NM_178500.4(PHOSPHO1):c.118G>C (p.Glu40Gln)	PHOSPHO1 (E65Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542962	NM_178500.4(PHOSPHO1):c.590G>T (p.Arg197Leu)	PHOSPHO1 (R197L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529280	NM_178500.4(PHOSPHO1):c.590G>A (p.Arg197His)	PHOSPHO1 (R197H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476549	NM_178500.4(PHOSPHO1):c.649G>T (p.Gly217Cys)	PHOSPHO1 (G242C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472436	NM_178500.4(PHOSPHO1):c.311A>C (p.Asp104Ala)	PHOSPHO1 (D129A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469252	NM_178500.4(PHOSPHO1):c.708G>T (p.Gln236His)	PHOSPHO1 (Q261H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376710	NM_178500.4(PHOSPHO1):c.688C>T (p.Arg230Cys)	PHOSPHO1 (R255C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342788	NM_178500.4(PHOSPHO1):c.46-18T>C	PHOSPHO1 (S35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317214	NM_178500.4(PHOSPHO1):c.482G>T (p.Arg161Leu)	PHOSPHO1 (R161L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312087	NM_178500.4(PHOSPHO1):c.86T>C (p.Leu29Pro)	PHOSPHO1 (L54P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246595	NM_178500.4(PHOSPHO1):c.688C>A (p.Arg230Ser)	PHOSPHO1 (R255S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807609	GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3	ABI3, ATP5MC1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688814	GRCh37/hg19 17q21.32-21.33(chr17:46899690-47540874)x3	ABI3, ATP5MC1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155384	GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	ABI3, ATP5MC1 +92 more	Copy number gain	See cases	GUncertain significance
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	ABI3, ATP5MC1 +87 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37