"SRGAP1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047245	NM_020762.4(SRGAP1):c.161G>A (p.Arg54Gln)	SRGAP1 (R54Q)	Single nucleotide variant (missense variant)	SRGAP1-related disorder	GUncertain significance
Select item 3057491	NM_020762.4(SRGAP1):c.427-4A>T	SRGAP1	Single nucleotide variant (intron variant)	SRGAP1-related disorder	GLikely benign
Select item 3031469	NM_020762.4(SRGAP1):c.555C>T (p.Ala185=)	SRGAP1	Single nucleotide variant (synonymous variant)	SRGAP1-related disorder	GLikely benign
Select item 2635302	NM_020762.4(SRGAP1):c.805_806delinsGT (p.Cys269Val)	SRGAP1 (C269V)	Indel (missense variant)	SRGAP1-related disorder	GUncertain significance
Select item 710135	NM_020762.4(SRGAP1):c.1113C>T (p.Ile371=)	SRGAP1	Single nucleotide variant (synonymous variant)	SRGAP1-related disorder +1 more	GBenign
Select item 779528	NM_020762.4(SRGAP1):c.1137G>A (p.Thr379=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3031809	NM_020762.4(SRGAP1):c.1323+6C>T	SRGAP1	Single nucleotide variant (intron variant)	SRGAP1-related disorder	GLikely benign
Select item 3036649	NM_020762.4(SRGAP1):c.1324-9dup	SRGAP1	Duplication (intron variant)	SRGAP1-related disorder	GLikely benign
Select item 3044370	NM_020762.4(SRGAP1):c.1476G>A (p.Lys492=)	SRGAP1	Single nucleotide variant (synonymous variant +1 more)	SRGAP1-related disorder	GLikely benign
Select item 734831	NM_020762.4(SRGAP1):c.1540-10C>T	SRGAP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 710136	NM_020762.4(SRGAP1):c.1705A>G (p.Ser569Gly)	SRGAP1 (S546G +1 more)	Single nucleotide variant (missense variant)	SRGAP1-related disorder +1 more	GBenign/Likely benign
Select item 208458	NM_020762.4(SRGAP1):c.1849C>T (p.Arg617Cys)	SRGAP1 (R617C +1 more)	Single nucleotide variant (missense variant)	SRGAP1-related disorder	GLikely benign
Select item 3031096	NM_020762.4(SRGAP1):c.2279G>A (p.Arg760Lys)	SRGAP1 (R737K +1 more)	Single nucleotide variant (missense variant)	SRGAP1-related disorder	GUncertain significance
Select item 785416	NM_020762.4(SRGAP1):c.2358C>T (p.Asn786=)	SRGAP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3044353	NM_020762.4(SRGAP1):c.2367C>T (p.Asp789=)	SRGAP1	Single nucleotide variant (synonymous variant)	SRGAP1-related disorder	GLikely benign
Select item 2632760	NM_020762.4(SRGAP1):c.2698C>G (p.Arg900Gly)	SRGAP1 (R877G +1 more)	Single nucleotide variant (missense variant)	SRGAP1-related disorder	GUncertain significance