ClinVar for Gene (Select 222659) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311853	NM_152990.4(PXT1):c.344T>C (p.Phe115Ser)	PXT1 (F115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311852	NM_152990.4(PXT1):c.216G>C (p.Lys72Asn)	PXT1 (K72N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3311851	NM_152990.4(PXT1):c.227A>G (p.Glu76Gly)	PXT1 (E76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	BRPF3, BNIP5 +18 more	Deletion	not provided	GPathogenic
Select item 3150146	NM_152990.4(PXT1):c.250A>C (p.Met84Leu)	PXT1 (M84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150144	NM_152990.4(PXT1):c.17A>G (p.Asp6Gly)	PXT1 (D6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150143	NM_152990.4(PXT1):c.173A>G (p.His58Arg)	PXT1 (H58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2494325	NM_152990.4(PXT1):c.312G>C (p.Gln104His)	PXT1 (Q104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2313342	NM_152990.4(PXT1):c.217C>T (p.His73Tyr)	PXT1 (H73Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286034	NM_152990.4(PXT1):c.308A>G (p.Gln103Arg)	PXT1 (Q103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	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 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
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
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic