Related gene-specific medical variations for Gene (Select 6770) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2885980	NM_000349.3(STAR):c.18C>T (p.Phe6=)	LOC108863620, STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826675	NM_000349.3(STAR):c.17del (p.Phe6fs)	LOC108863620, STAR (F6fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2765561	NM_000349.3(STAR):c.4C>T (p.Leu2=)	LOC108863620, STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2626753	NM_000349.3(STAR):c.814C>G (p.Arg272Gly)	STAR (R272G)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 2436503	NM_000349.3(STAR):c.727C>T (p.Leu243Phe)	STAR (L243F)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 2090260	NM_000349.3(STAR):c.12G>C (p.Ala4=)	LOC108863620, STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081720	NM_000349.3(STAR):c.6G>A (p.Leu2=)	LOC108863620, STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662062	NM_000349.3(STAR):c.9A>G (p.Leu3=)	LOC108863620, STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1546952	NM_000349.3(STAR):c.15A>T (p.Thr5=)	LOC108863620, STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325150	NM_000349.3(STAR):c.650+1G>A	STAR	Single nucleotide variant (splice donor variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GLikely pathogenic
Select item 1132825	NM_000349.3(STAR):c.12G>A (p.Ala4=)	LOC108863620, STAR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991272	NM_000349.3(STAR):c.161G>T (p.Arg54Leu)	STAR (R54L)	Single nucleotide variant (missense variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 987070	NM_000349.3(STAR):c.8_9del (p.Leu3fs)	LOC108863620, STAR (L3fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 911474	NM_000349.3(STAR):c.-16C>T	LOC108863620, STAR	Single nucleotide variant (5 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance
Select item 362851	NM_000349.3(STAR):c.-70G>T	LOC108863620, STAR	Single nucleotide variant (5 prime UTR variant)	Congenital lipoid adrenal hyperplasia due to STAR deficency	GUncertain significance