Related gene-specific medical variations for Gene (Select 221264) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3104319	NM_001145128.3(AK9):c.5489G>A (p.Ser1830Asn)	AK9, ZBTB24-DT (S1830N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104308	NM_001145128.3(AK9):c.5116A>C (p.Ile1706Leu)	AK9, ZBTB24-DT (I1706L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104295	NM_001145128.3(AK9):c.4961T>C (p.Phe1654Ser)	AK9, ZBTB24-DT (F1654S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104267	NM_001145128.3(AK9):c.4685A>G (p.Tyr1562Cys)	AK9, ZBTB24-DT (Y1562C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104266	NM_001145128.3(AK9):c.4645C>T (p.His1549Tyr)	AK9, ZBTB24-DT (H1549Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692351	NM_001145128.3(AK9):c.4872_4875dup (p.Cys1626fs)	AK9, ZBTB24-DT (C1626fs)	Duplication (frameshift variant)	Spermatogenic failure 89	GPathogenic
Select item 2656829	NM_001145128.3(AK9):c.4863C>T (p.Cys1621=)	AK9, ZBTB24-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2620415	NM_001145128.3(AK9):c.5153G>A (p.Arg1718Gln)	AK9, ZBTB24-DT (R1718Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515146	NM_001145128.3(AK9):c.4855G>A (p.Ala1619Thr)	AK9, ZBTB24-DT (A1619T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509116	NM_001145128.3(AK9):c.4539G>T (p.Arg1513Ser)	AK9, ZBTB24-DT (R1513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369230	NM_001145128.3(AK9):c.5375C>T (p.Pro1792Leu)	AK9, ZBTB24-DT (P1792L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342293	NM_001145128.3(AK9):c.4904G>A (p.Arg1635His)	AK9, ZBTB24-DT (R1635H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325098	NM_001145128.3(AK9):c.5723C>A (p.Pro1908Gln)	AK9, ZBTB24-DT (P1908Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278238	NM_001145128.3(AK9):c.5080C>T (p.Pro1694Ser)	AK9, ZBTB24-DT (P1694S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248224	NM_001145128.3(AK9):c.5719G>T (p.Asp1907Tyr)	AK9, ZBTB24-DT (D1907Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210824	NM_001145128.3(AK9):c.5554G>A (p.Glu1852Lys)	AK9, ZBTB24-DT (E1852K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931747	NM_001145128.3(AK9):c.1254+12A>T	AK9	Single nucleotide variant (stop lost +2 more)	not provided	GUncertain significance
Select item 931746	NM_001145128.3(AK9):c.1254+19G>A	AK9	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 792049	NM_001145128.3(AK9):c.5277T>C (p.Tyr1759=)	AK9, ZBTB24-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789748	NM_001145128.3(AK9):c.4896G>A (p.Leu1632=)	AK9, ZBTB24-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778890	NM_001145128.3(AK9):c.4650T>C (p.Asn1550=)	AK9, ZBTB24-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770553	NM_001145128.3(AK9):c.4773G>T (p.Trp1591Cys)	AK9, ZBTB24-DT (W1591C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 668144	NM_001145128.3(AK9):c.-12+76T>C	AK9, FIG4 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 151008	GRCh38/hg38 6q21(chr6:109563992-109661172)x1	AK9	Copy number loss	See cases	GUncertain significance

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Items: 24