RHBDD1[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 149467	GRCh38/hg38 2q36.3(chr2:226637143-226858469)x3	IRS1, LOC112840906 +16 more	Copy number gain	See cases	GLikely benign
Select item 2354231	NM_001167608.3(RHBDD1):c.7C>T (p.Arg3Trp)	RHBDD1 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507861	NM_001167608.3(RHBDD1):c.22A>T (p.Ile8Leu)	RHBDD1 (I8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153954	NM_001167608.3(RHBDD1):c.26A>G (p.Asn9Ser)	RHBDD1 (N9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153956	NM_001167608.3(RHBDD1):c.73A>G (p.Asn25Asp)	RHBDD1 (N25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291813	NM_001167608.3(RHBDD1):c.130A>T (p.Asn44Tyr)	RHBDD1 (N44Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314160	NM_001167608.3(RHBDD1):c.133C>A (p.Pro45Thr)	RHBDD1 (P45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232922	NM_001167608.3(RHBDD1):c.152G>A (p.Ser51Asn)	RHBDD1 (S51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327381	NM_001167608.3(RHBDD1):c.199C>T (p.Arg67Cys)	RHBDD1 (R67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314158	NM_001167608.3(RHBDD1):c.200G>A (p.Arg67His)	RHBDD1 (R67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529812	NM_001167608.3(RHBDD1):c.226G>A (p.Ala76Thr)	RHBDD1 (A76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153955	NM_001167608.3(RHBDD1):c.512C>G (p.Pro171Arg)	RHBDD1 (P171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595115	NM_001167608.3(RHBDD1):c.512C>T (p.Pro171Leu)	RHBDD1 (P171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314157	NM_001167608.3(RHBDD1):c.705T>A (p.Asn235Lys)	RHBDD1 (N235K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152845	GRCh38/hg38 2q36.3(chr2:226913957-226978129)x1	COL4A4, LOC129389001 +2 more	Copy number loss	See cases	GUncertain significance
Select item 2387063	NM_001167608.3(RHBDD1):c.740C>T (p.Pro247Leu)	RHBDD1 (P247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651953	NM_001167608.3(RHBDD1):c.788C>T (p.Thr263Met)	RHBDD1 (T263M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3153957	NM_001167608.3(RHBDD1):c.808G>A (p.Glu270Lys)	RHBDD1 (E270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608517	NM_001167608.3(RHBDD1):c.820C>T (p.Leu274Phe)	RHBDD1 (L274F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365261	NM_001167608.3(RHBDD1):c.839C>G (p.Ala280Gly)	RHBDD1 (A280G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 3314159	NM_001167608.3(RHBDD1):c.881C>A (p.Pro294His)	COL4A4, LOC126806538 +1 more (P294H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769592	NM_001167608.3(RHBDD1):c.897C>T (p.Leu299=)	COL4A4, LOC126806538 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2251947	NM_001167608.3(RHBDD1):c.910A>G (p.Met304Val)	COL4A4, LOC126806538 +1 more (M304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2426892	NC_000002.11:g.(?_227659726)_(228567034_?)dup	AGFG1, C2orf83 +7 more	Duplication	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1459226	NC_000002.11:g.(?_227659726)_(228175684_?)del	COL4A3, COL4A4 +2 more	Deletion	not provided	GPathogenic
Select item 1429511	NC_000002.11:g.(?_227659726)_(227927334_?)del	COL4A4, IRS1 +1 more	Deletion	not provided	GPathogenic
Select item 1419797	NC_000002.11:g.(?_227659726)_(228175684_?)dup	COL4A3, COL4A4 +2 more	Duplication	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980012	GRCh37/hg19 2q36.2-36.3(chr2:226027074-229110812)x1	SPHKAP, MFF +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 816575	GRCh37/hg19 2q36.3(chr2:227766370-227857616)x1	RHBDD1	Copy number loss	not provided	GUncertain significance
Select item 814370	GRCh37/hg19 2q36.3(chr2:227763096-227818239)x1	RHBDD1	Copy number loss	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562506	GRCh37/hg19 2q36.3(chr2:227766478-227855256)x1	RHBDD1	Copy number loss	not provided	GUncertain significance
Select item 443231	GRCh37/hg19 2q36.3(chr2:226921892-227997073)x3	COL4A4, IRS1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 441805	GRCh37/hg19 2q36.3(chr2:227818366-228074909)x3	COL4A3, COL4A4 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 53