ClinVar for Gene (Select 58477) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170061	NM_001379313.1(SRPRB):c.763G>A (p.Val255Met)	SRPRB (V255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170060	NM_001379313.1(SRPRB):c.737G>A (p.Cys246Tyr)	SRPRB (C246Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170059	NM_001379313.1(SRPRB):c.50G>T (p.Gly17Val)	LOC129937608, SRPRB (G17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170058	NM_001379313.1(SRPRB):c.47G>T (p.Gly16Val)	LOC129937608, SRPRB (G16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170057	NM_001379313.1(SRPRB):c.299G>A (p.Cys100Tyr)	SRPRB (C100Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170055	NM_001379313.1(SRPRB):c.160T>C (p.Trp54Arg)	SRPRB (W54R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620895	NM_001379313.1(SRPRB):c.617T>C (p.Val206Ala)	SRPRB (V206A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588197	NM_001379313.1(SRPRB):c.703T>C (p.Ser235Pro)	SRPRB (S235P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392673	NM_001379313.1(SRPRB):c.184A>G (p.Ser62Gly)	SRPRB (S62G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383062	NM_001379313.1(SRPRB):c.173G>A (p.Arg58Gln)	SRPRB (R58Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319326	NM_001379313.1(SRPRB):c.401C>G (p.Ser134Cys)	SRPRB (S134C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300677	NM_001379313.1(SRPRB):c.119T>C (p.Val40Ala)	LOC129937608, SRPRB (V40A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277791	NM_001379313.1(SRPRB):c.449G>A (p.Arg150Gln)	SRPRB (R150Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236129	NM_001379313.1(SRPRB):c.273C>A (p.Asp91Glu)	SRPRB (D91E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227824	NM_001379313.1(SRPRB):c.388G>C (p.Glu130Gln)	SRPRB (E130Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223560	NM_001379313.1(SRPRB):c.491T>C (p.Ile164Thr)	SRPRB (I164T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 785065	NM_001379313.1(SRPRB):c.315C>T (p.Val105=)	SRPRB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 685898	GRCh37/hg19 3q22.1(chr3:133505914-133586095)x1	RAB6B, SRPRB	Copy number loss	not provided	GUncertain significance
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	LOC129937649, LOC129937650 +301 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 31