"GGCX-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047674	NM_000821.7(GGCX):c.*5G>A	GGCX	Single nucleotide variant (3 prime UTR variant)	GGCX-related condition	GLikely benign
Select item 2910623	NM_000821.7(GGCX):c.2136C>G (p.Ser712=)	GGCX	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 375657	NM_000821.7(GGCX):c.2084+45G>C	GGCX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2784892	NM_000821.7(GGCX):c.2049C>T (p.Arg683=)	GGCX	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 337260	NM_000821.7(GGCX):c.1906C>A (p.Pro636Thr)	GGCX (P636T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3053161	NM_000821.7(GGCX):c.1896G>A (p.Gly632=)	GGCX	Single nucleotide variant (synonymous variant)	GGCX-related condition	GLikely benign
Select item 337262	NM_000821.7(GGCX):c.1806C>G (p.Val602=)	GGCX	Single nucleotide variant (synonymous variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1 +2 more	GBenign/Likely benign
Select item 3057469	NM_000821.7(GGCX):c.1741-10C>T	GGCX	Single nucleotide variant (intron variant)	GGCX-related condition	GLikely benign
Select item 789561	NM_000821.7(GGCX):c.1580C>T (p.Thr527Ile)	GGCX (T470I +1 more)	Single nucleotide variant (missense variant)	GGCX-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1361138	NM_000821.7(GGCX):c.1306C>T (p.Arg436Ter)	GGCX (R379* +1 more)	Single nucleotide variant (nonsense)	GGCX-related condition +1 more	GPathogenic/Likely pathogenic
Select item 2631203	NM_000821.7(GGCX):c.1297_1298del (p.Gln433fs)	GGCX (Q376fs +1 more)	Microsatellite (frameshift variant)	GGCX-related condition +1 more	GPathogenic/Likely pathogenic
Select item 2745105	NM_000821.7(GGCX):c.1230C>T (p.His410=)	GGCX	Single nucleotide variant (synonymous variant)	GGCX-related condition +1 more	GBenign/Likely benign
Select item 337267	NM_000821.7(GGCX):c.1107C>T (p.Leu369=)	GGCX	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2203110	NM_000821.7(GGCX):c.944G>A (p.Trp315Ter)	GGCX (W258* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2373531	NM_000821.7(GGCX):c.885C>G (p.Ser295Arg)	GGCX (S238R +1 more)	Single nucleotide variant (missense variant)	GGCX-related condition +1 more	GUncertain significance
Select item 1599327	NM_000821.7(GGCX):c.618+5A>G	GGCX	Single nucleotide variant (intron variant)	GGCX-related condition +1 more	GBenign/Likely benign
Select item 773484	NM_000821.7(GGCX):c.582C>T (p.His194=)	GGCX	Single nucleotide variant (synonymous variant)	GGCX-related condition +2 more	GBenign/Likely benign
Select item 337273	NM_000821.7(GGCX):c.529A>G (p.Asn177Asp)	GGCX (N177D +1 more)	Single nucleotide variant (missense variant)	GGCX-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1991945	NM_000821.7(GGCX):c.435A>G (p.Pro145=)	GGCX	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3056441	NM_000821.7(GGCX):c.207T>C (p.Phe69=)	GGCX	Single nucleotide variant (synonymous variant +1 more)	GGCX-related condition	GLikely benign
Select item 337277	NM_000821.7(GGCX):c.189C>T (p.Ser63=)	GGCX	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1608428	NM_000821.7(GGCX):c.24G>C (p.Ala8=)	GGCX	Single nucleotide variant (synonymous variant)	GGCX-related condition +1 more	GLikely benign

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Items: 22