RASGRP3-AS1[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 2606448	NM_001139488.2(RASGRP3):c.1592A>G (p.Asn531Ser)	RASGRP3, RASGRP3-AS1 (N531S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343946	NM_001139488.2(RASGRP3):c.1646G>A (p.Arg549Gln)	RASGRP3, RASGRP3-AS1 (R549Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214926	NM_001139488.2(RASGRP3):c.1694C>G (p.Ser565Trp)	RASGRP3, RASGRP3-AS1 (S565W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490498	NM_001139488.2(RASGRP3):c.1721T>C (p.Phe574Ser)	RASGRP3, RASGRP3-AS1 (F573S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151862	NM_001139488.2(RASGRP3):c.1780G>A (p.Val594Ile)	RASGRP3, RASGRP3-AS1 (V593I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151863	NM_001139488.2(RASGRP3):c.1792T>C (p.Ser598Pro)	RASGRP3, RASGRP3-AS1 (S597P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531126	NM_001139488.2(RASGRP3):c.1795C>T (p.Arg599Cys)	RASGRP3, RASGRP3-AS1 (R598C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539757	NM_001139488.2(RASGRP3):c.1931C>T (p.Ala644Val)	RASGRP3, RASGRP3-AS1 (A643V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487174	NM_001139488.2(RASGRP3):c.1951G>T (p.Ala651Ser)	RASGRP3, RASGRP3-AS1 (A651S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151864	NM_001139488.2(RASGRP3):c.1982A>G (p.His661Arg)	RASGRP3, RASGRP3-AS1 (H661R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457432	NM_001139488.2(RASGRP3):c.2005C>T (p.Arg669Trp)	RASGRP3, RASGRP3-AS1 (R668W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance