"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GUCA1A"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356692	NM_001384910.1(GUCA1A):c.10G>A (p.Val4Met)	GUCA1A, GUCA1ANB-GUCA1A (V4M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 867036	NM_001384910.1(GUCA1A):c.212T>C (p.Ile71Thr)	GUCA1A, GUCA1ANB-GUCA1A (I71T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 802212	NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu)	GUCA1ANB-GUCA1A, GUCA1A (R120L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 547001	NM_001384910.1(GUCA1A):c.443A>C (p.Asp148Ala)	GUCA1A, GUCA1ANB-GUCA1A (D148A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 198078	NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe)	GUCA1A, GUCA1ANB-GUCA1A (L176F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 493566	GRCh37/hg19 6p21.1(chr6:42039993-42270812)x3	TAF8, TRERF1 +4 more	Copy number gain	not provided	GLikely pathogenic

ClinVar