7873[geneid] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 3038854	NM_006010.6(MANF):c.-15AGGAGGATG[2] (p.Arg2_Met4del)	LOC129936816, MANF	Microsatellite (initiator_codon_variant)	MANF-related disorder	GLikely benign
Select item 3034168	NM_006010.6(MANF):c.-8_-6dup	LOC129936816, MANF	Duplication (5 prime UTR variant)	MANF-related disorder	GLikely benign
Select item 2299429	NM_006010.6(MANF):c.4A>T (p.Arg2Trp)	LOC129936816, MANF (R2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292878	NM_006010.6(MANF):c.26G>A (p.Gly9Glu)	LOC129936816, MANF (G9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664491	NM_006010.6(MANF):c.73_85del (p.Leu25fs)	LOC129936816, MANF (L25fs)	Deletion (frameshift variant)	Diabetes, deafness, developmental delay, and short stature syndrome	GPathogenic
Select item 2664490	NM_006010.6(MANF):c.94+1G>T	LOC129936816, MANF	Single nucleotide variant (splice donor variant)	Diabetes, deafness, developmental delay, and short stature syndrome	GPathogenic
Select item 3122603	NM_006010.6(MANF):c.133A>G (p.Lys45Glu)	MANF (K45E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522949	NM_006010.6(MANF):c.153C>G (p.Phe51Leu)	MANF (F51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341384	NM_006010.6(MANF):c.155C>T (p.Ser52Leu)	MANF (S52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283119	NM_006010.6(MANF):c.168T>G (p.Ile56Met)	MANF (I56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122604	NM_006010.6(MANF):c.182T>C (p.Ile61Thr)	MANF (I61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041102	NM_006010.6(MANF):c.223-10A>C	MANF	Single nucleotide variant (intron variant)	MANF-related disorder	GLikely benign
Select item 3122605	NM_006010.6(MANF):c.272A>G (p.Glu91Gly)	MANF (E91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122606	NM_006010.6(MANF):c.298A>G (p.Ile100Val)	MANF (I100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292877	NM_006010.6(MANF):c.345G>C (p.Gln115His)	MANF (Q115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048261	NM_006010.6(MANF):c.435T>C (p.Asp145=)	MANF	Single nucleotide variant (synonymous variant)	MANF-related disorder	GLikely benign
Select item 2242334	NM_006010.6(MANF):c.440G>C (p.Trp147Ser)	MANF (W147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294193	NM_006010.6(MANF):c.458G>A (p.Gly153Asp)	MANF (G153D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733337	NM_006010.6(MANF):c.483C>T (p.Ile161=)	MANF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 980508	GRCh37/hg19 3p21.2(chr3:51159973-51440650)x1	MANF, DOCK3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 26